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المؤلفون: Chuang NT; Graduate Program in Molecular Medicine, University of Maryland, Baltimore, Baltimore, Maryland 21201, USA.; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.; Division of Gastroenterology, Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA., Gardner EJ; Graduate Program in Molecular Medicine, University of Maryland, Baltimore, Baltimore, Maryland 21201, USA.; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA., Terry DM; Graduate Program in Molecular Medicine, University of Maryland, Baltimore, Baltimore, Maryland 21201, USA.; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA., Crabtree J; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA., Mahurkar AA; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA., Rivell GL; Greenebaum Comprehensive Cancer Center, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA., Hong CC; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA., Perry JA; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA., Devine SE; Graduate Program in Molecular Medicine, University of Maryland, Baltimore, Baltimore, Maryland 21201, USA.; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.; Greenebaum Comprehensive Cancer Center, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.

المصدر: Genome research [Genome Res] 2021 Dec; Vol. 31 (12), pp. 2225-2235. Date of Electronic Publication: 2021 Nov 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Ebert P; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany., Audano PA; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA., Zhu Q; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA., Rodriguez-Martin B; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany., Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA., Bonder MJ; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany.; Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany., Sulovari A; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA., Ebler J; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany., Zhou W; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, 100 Washtenaw Avenue, Ann Arbor, MI 48109, USA., Serra Mari R; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany., Yilmaz F; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA., Zhao X; Center for Genomic Medicine, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Hsieh P; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA., Lee J; Bionano Genomics, San Diego, CA 92121, USA., Kumar S; Program in Computational Biology and Bioinformatics, Yale University, BASS 432 and 437, 266 Whitney Avenue, New Haven, CT 06520, USA., Lin J; School of Automation Science and Engineering, Faculty of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, Shaanxi, 710049, China., Rausch T; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany., Chen Y; Department of Genetics and Informatics Institute, School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Ren J; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, USA., Santamarina M; Genomes and Disease, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Department of Zoology, Genetics, and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Höps W; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany., Ashraf H; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany., Chuang NT; Institute for Genome Sciences, University of Maryland School of Medicine, 670 W Baltimore Street, Baltimore, MD 21201, USA., Yang X; School of Computer Science and Technology, Faculty of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, Shaanxi, 710049, China., Munson KM; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA., Lewis AP; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA., Fairley S; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Tallon LJ; Institute for Genome Sciences, University of Maryland School of Medicine, 670 W Baltimore Street, Baltimore, MD 21201, USA., Clarke WE; New York Genome Center, New York, NY 10013, USA., Basile AO; New York Genome Center, New York, NY 10013, USA., Byrska-Bishop M; New York Genome Center, New York, NY 10013, USA., Corvelo A; New York Genome Center, New York, NY 10013, USA., Evani US; New York Genome Center, New York, NY 10013, USA., Lu TY; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, USA., Chaisson MJP; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, USA., Chen J; Department of Computer and Information Sciences, Temple University, Philadelphia, PA 19122, USA., Li C; Department of Computer and Information Sciences, Temple University, Philadelphia, PA 19122, USA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Wenger AM; Pacific Biosciences of California, Menlo Park, CA 94025, USA., Ghareghani M; Max Planck Institute for Informatics, Saarland Informatics Campus E1.4, 66123 Saarbrücken, Germany.; Saarbrücken Graduate School of Computer Science, Saarland University, Saarland Informatics Campus E1.3, 66123 Saarbrücken, Germany.; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany., Harvey WT; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA., Raeder B; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany., Hasenfeld P; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany., Regier AA; Department of Medicine, Washington University, St. Louis, MO 63108, USA., Abel HJ; Department of Medicine, Washington University, St. Louis, MO 63108, USA., Hall IM; Department of Genetics, Yale School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA., Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Stegle O; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany.; Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany., Gerstein MB; Program in Computational Biology and Bioinformatics, Yale University, BASS 432 and 437, 266 Whitney Avenue, New Haven, CT 06520, USA., Tubio JMC; Genomes and Disease, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Department of Zoology, Genetics, and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Mu Z; Genetics, Genomics, and Systems Biology, University of Chicago, Chicago, IL 60637, USA., Li YI; Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL 60637, USA., Shi X; Department of Computer and Information Sciences, Temple University, Philadelphia, PA 19122, USA., Hastie AR; Bionano Genomics, San Diego, CA 92121, USA., Ye K; School of Automation Science and Engineering, Faculty of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, Shaanxi, 710049, China.; Department of Human Genetics, University of Michigan, 1241 E. Catherine Street, Ann Arbor, MI 48109, USA., Chong Z; Department of Genetics and Informatics Institute, School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Sanders AD; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany., Zody MC; New York Genome Center, New York, NY 10013, USA., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Mills RE; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, 100 Washtenaw Avenue, Ann Arbor, MI 48109, USA.; Department of Human Genetics, University of Michigan, 1241 E. Catherine Street, Ann Arbor, MI 48109, USA., Devine SE; Institute for Genome Sciences, University of Maryland School of Medicine, 670 W Baltimore Street, Baltimore, MD 21201, USA., Lee C; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA. eee@gs.washington.edu tobias.marschall@hhu.de jan.korbel@embl.org charles.lee@jax.org.; Precision Medicine Center, The First Affiliated Hospital of Xi'an Jiaotong University, 277 West Yanta Road, Xi'an, 710061, Shaanxi, China.; Department of Graduate Studies-Life Sciences, Ewha Womans University, Ewhayeodae-gil, Seodaemun-gu, Seoul 120-750, South Korea., Korbel JO; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany. eee@gs.washington.edu tobias.marschall@hhu.de jan.korbel@embl.org charles.lee@jax.org.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Marschall T; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany. eee@gs.washington.edu tobias.marschall@hhu.de jan.korbel@embl.org charles.lee@jax.org., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA. eee@gs.washington.edu tobias.marschall@hhu.de jan.korbel@embl.org charles.lee@jax.org.; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.

المصدر: Science (New York, N.Y.) [Science] 2021 Apr 02; Vol. 372 (6537). Date of Electronic Publication: 2021 Feb 25.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation* , Genome, Human* , Haplotypes*, Female ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; INDEL Mutation ; Interspersed Repetitive Sequences ; Male ; Population Groups/genetics ; Quantitative Trait Loci ; Retroelements ; Sequence Analysis, DNA ; Sequence Inversion ; Whole Genome Sequencing

المؤلفون: Chuang NT; Division of Gastroenterology and Hepatology, University of Maryland Medical Center, Baltimore, MD., Agarwal A; Division of Gastroenterology and Hepatology, University of Maryland Medical Center, Baltimore, MD., Kim R; Division of Gastroenterology and Hepatology, University of Maryland Medical Center, Baltimore, MD.

المصدر: ACG case reports journal [ACG Case Rep J] 2020 Feb 20; Vol. 7 (2), pp. e00275. Date of Electronic Publication: 2020 Feb 20 (Print Publication: 2020).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101638398 Publication Model: eCollection Cited Medium: Print ISSN: 2326-3253 (Print) Linking ISSN: 23263253 NLM ISO Abbreviation: ACG Case Rep J Subsets: PubMed not MEDLINE

المؤلفون: Chaisson MJP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, 90089, USA., Sanders AD; European Molecular Biology Laboratory, Genome Biology Unit, 69117, Heidelberg, Germany., Zhao X; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, 48109, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA, 02114, USA., Malhotra A; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Porubsky D; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Centre Groningen, Groningen, AV, NL-9713, The Netherlands.; Center for Bioinformatics, Saarland University and the Max Planck Institute for Informatics, 66123, Saarbrücken, Germany., Rausch T; European Molecular Biology Laboratory, Genome Biology Unit, 69117, Heidelberg, Germany., Gardner EJ; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, 21201, USA., Rodriguez OL; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA., Guo L; The School of Life Science and Technology of Xi'an Jiaotong University, 710049, Xi'an, China.; MOE Key Lab for Intelligent Networks & Networks Security, School of Electronics and Information Engineering, Xi'an Jiaotong University, 710049, Xi'an, China.; Ye-Lab For Omics and Omics Informatics, Xi'an Jiaotong University, 710049, Xi'an, China., Collins RL; Center for Genomic Medicine, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA, 02114, USA.; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, 02115, USA., Fan X; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA., Wen J; Department of Bioinformatics and Genomics, College of Computing and Informatics, The University of North Carolina at Charlotte, Charlotte, NC, 28223, USA., Handsaker RE; Department of Genetics, Harvard Medical School, Boston, MA, 02115, USA.; The Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Fairley S; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom., Kronenberg ZN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA., Kong X; Yale University Medical School, Computational Biology and Bioinformatics Program, New Haven, CT, 06520, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, 266 Whitney Avenue, New Haven, CT, 06520, USA., Hormozdiari F; Biochemistry and Molecular Medicine, University of California Davis, Davis, CA, 95616, USA.; UC Davis Genome Center, University of California, Davis, Davis, CA, 95616, USA., Lee D; USTAR Center for Genetic Discovery and Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, 84112, USA., Wenger AM; Pacific Biosciences, Menlo Park, CA, 94025, USA., Hastie AR; Bionano Genomics, San Diego, CA, 92121, USA., Antaki D; Beyster Center for Genomics of Psychiatric Diseases, Department of Psychiatry University of California San Diego, La Jolla, CA, 92093, USA., Anantharaman T; Bionano Genomics, San Diego, CA, 92121, USA., Audano PA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA, 02114, USA., Cantsilieris S; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA., Cao H; Bionano Genomics, San Diego, CA, 92121, USA., Cerveira E; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Chen C; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA., Chen X; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, 21201, USA., Chin CS; Pacific Biosciences, Menlo Park, CA, 94025, USA., Chong Z; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA., Chuang NT; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, 21201, USA., Lambert CC; Pacific Biosciences, Menlo Park, CA, 94025, USA., Church DM; 10X Genomics, Pleasanton, CA, 94566, USA., Clarke L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom., Farrell A; USTAR Center for Genetic Discovery and Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, 84112, USA., Flores J; Illumina Clinical Services Laboratory, Illumina, Inc., 5200 Illumina Way, San Diego, CA, 92122, USA., Galeev T; Yale University Medical School, Computational Biology and Bioinformatics Program, New Haven, CT, 06520, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, 266 Whitney Avenue, New Haven, CT, 06520, USA., Gorkin DU; Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA, 92093, USA.; Ludwig Institute for Cancer Research, La Jolla, CA, 92093, USA., Gujral M; Beyster Center for Genomics of Psychiatric Diseases, Department of Psychiatry University of California San Diego, La Jolla, CA, 92093, USA., Guryev V; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Centre Groningen, Groningen, AV, NL-9713, The Netherlands., Heaton WH; 10X Genomics, Pleasanton, CA, 94566, USA., Korlach J; Pacific Biosciences, Menlo Park, CA, 94025, USA., Kumar S; Yale University Medical School, Computational Biology and Bioinformatics Program, New Haven, CT, 06520, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, 266 Whitney Avenue, New Haven, CT, 06520, USA., Kwon JY; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.; Department of Graduate Studies - Life Sciences, Ewha Womans University, 52, Ewhayeodae-gil, Seodaemun-gu, Seoul, 03760, South Korea., Lam ET; Bionano Genomics, San Diego, CA, 92121, USA., Lee JE; DNA Link, Seodaemun-gu, Seoul, South Korea., Lee J; Bionano Genomics, San Diego, CA, 92121, USA., Lee WP; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Lee SP; TreeCode Sdn Bhd, Bandar Botanic, 41200, Klang, Malaysia., Li S; Yale University Medical School, Computational Biology and Bioinformatics Program, New Haven, CT, 06520, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, 266 Whitney Avenue, New Haven, CT, 06520, USA., Marks P; 10X Genomics, Pleasanton, CA, 94566, USA., Viaud-Martinez K; Illumina Clinical Services Laboratory, Illumina, Inc., 5200 Illumina Way, San Diego, CA, 92122, USA., Meiers S; European Molecular Biology Laboratory, Genome Biology Unit, 69117, Heidelberg, Germany., Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA., Navarro FCP; Yale University Medical School, Computational Biology and Bioinformatics Program, New Haven, CT, 06520, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, 266 Whitney Avenue, New Haven, CT, 06520, USA., Nelson BJ; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA., Nodzak C; Department of Bioinformatics and Genomics, College of Computing and Informatics, The University of North Carolina at Charlotte, Charlotte, NC, 28223, USA., Noor A; Beyster Center for Genomics of Psychiatric Diseases, Department of Psychiatry University of California San Diego, La Jolla, CA, 92093, USA., Kyriazopoulou-Panagiotopoulou S; 10X Genomics, Pleasanton, CA, 94566, USA., Pang AWC; Bionano Genomics, San Diego, CA, 92121, USA., Qiu Y; Ludwig Institute for Cancer Research, La Jolla, CA, 92093, USA.; Bioinformatics and Systems Biology Graduate Program, University of California, San Diego, La Jolla, CA, 92093, USA., Rosanio G; Beyster Center for Genomics of Psychiatric Diseases, Department of Psychiatry University of California San Diego, La Jolla, CA, 92093, USA., Ryan M; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Stütz A; European Molecular Biology Laboratory, Genome Biology Unit, 69117, Heidelberg, Germany., Spierings DCJ; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Centre Groningen, Groningen, AV, NL-9713, The Netherlands., Ward A; USTAR Center for Genetic Discovery and Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, 84112, USA., Welch AE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA., Xiao M; School of Biomedical Engineering, Drexel University, Philadelphia, PA, 19104, USA., Xu W; 10X Genomics, Pleasanton, CA, 94566, USA., Zhang C; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Zhu Q; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Zheng-Bradley X; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom., Lowy E; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom., Yakneen S; European Molecular Biology Laboratory, Genome Biology Unit, 69117, Heidelberg, Germany., McCarroll S; Department of Genetics, Harvard Medical School, Boston, MA, 02115, USA.; The Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Jun G; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, 77225, USA., Ding L; Department of Medicine, McDonnell Genome Institute, Siteman Cancer Center, Washington University School of Medicine, St. Louis, MI, 63108, USA., Koh CL; High Impact Research, University of Malaya, 50603, Kuala Lumpur, Malaysia., Ren B; Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA, 92093, USA.; Ludwig Institute for Cancer Research, La Jolla, CA, 92093, USA., Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom., Chen K; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA., Gerstein MB; Yale University Medical School, Computational Biology and Bioinformatics Program, New Haven, CT, 06520, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, 266 Whitney Avenue, New Haven, CT, 06520, USA.; Department of Computer Science, Yale University, 266 Whitney Avenue, New Haven, CT, 06520, USA.; Department of Statistics and Data Science, Yale University, 266 Whitney Avenue, New Haven, CT, 06520, USA., Kwok PY; Institute for Human Genetics, University of California-San Francisco, San Francisco, CA, 94143, USA., Lansdorp PM; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Centre Groningen, Groningen, AV, NL-9713, The Netherlands.; Terry Fox Laboratory, BC Cancer Agency, Vancouver, BC, V5Z 1L3, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6T 1Z4, Canada., Marth GT; USTAR Center for Genetic Discovery and Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, 84112, USA., Sebat J; Beyster Center for Genomics of Psychiatric Diseases, Department of Psychiatry University of California San Diego, La Jolla, CA, 92093, USA.; Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA, 92093, USA.; Department of Pediatrics, University of California San Diego, La Jolla, CA, 92093, USA., Shi X; Department of Bioinformatics and Genomics, College of Computing and Informatics, The University of North Carolina at Charlotte, Charlotte, NC, 28223, USA., Bashir A; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA., Ye K; MOE Key Lab for Intelligent Networks & Networks Security, School of Electronics and Information Engineering, Xi'an Jiaotong University, 710049, Xi'an, China.; Ye-Lab For Omics and Omics Informatics, Xi'an Jiaotong University, 710049, Xi'an, China.; The First Affiliated Hospital of Xi'an Jiaotong University, 710061, Xi'an, China., Devine SE; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, 21201, USA., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA, 02114, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Mills RE; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, 48109, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, MI, 48109, USA., Marschall T; Center for Bioinformatics, Saarland University and the Max Planck Institute for Informatics, 66123, Saarbrücken, Germany., Korbel JO; European Molecular Biology Laboratory, Genome Biology Unit, 69117, Heidelberg, Germany. jan.korbel@embl.de.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom. jan.korbel@embl.de., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA. eee@gs.washington.edu.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA. eee@gs.washington.edu., Lee C; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA. charles.lee@jax.org.; Department of Graduate Studies - Life Sciences, Ewha Womans University, 52, Ewhayeodae-gil, Seodaemun-gu, Seoul, 03760, South Korea. charles.lee@jax.org.

المصدر: Nature communications [Nat Commun] 2019 Apr 16; Vol. 10 (1), pp. 1784. Date of Electronic Publication: 2019 Apr 16.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Genomic Structural Variation*, Genome, Human/*genetics , Genomics/*methods , Haplotypes/*genetics, Algorithms ; Chromosome Mapping/methods ; Databases, Genetic ; High-Throughput Nucleotide Sequencing/methods ; Humans ; INDEL Mutation ; Whole Genome Sequencing/methods

المؤلفون: Gardner EJ; Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA., Lam VK; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.; Greenebaum Cancer Center, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA., Harris DN; Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA., Chuang NT; Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.; Division of Gastroenterology, Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA., Scott EC; Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA., Pittard WS; Department of Biostatistics and Bioinformatics, Rollins School of Public Health, Emory University, Atlanta, Georgia 30322, USA., Mills RE; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA., Devine SE; Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.; Greenebaum Cancer Center, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.

مؤلفون مشاركون: 1000 Genomes Project Consortium

المصدر: Genome research [Genome Res] 2017 Nov; Vol. 27 (11), pp. 1916-1929. Date of Electronic Publication: 2017 Aug 30.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

مواضيع طبية MeSH: DNA Transposable Elements*, Computational Biology/*methods , Neanderthals/*genetics , Pan troglodytes/*genetics, Animals ; Databases, Genetic ; Evolution, Molecular ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Polymorphism, Single Nucleotide ; Software ; Whole Genome Sequencing/methods

المؤلفون: Scott EC; Graduate Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA;, Gardner EJ; Graduate Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA;, Masood A; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Greenebaum Cancer Center, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA;, Chuang NT; Graduate Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Division of Gastroenterology, Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA;, Vertino PM; Department of Radiation Oncology, Emory University School of Medicine, Atlanta, Georgia 30322, USA; Winship Cancer Institute, Emory University, Atlanta, Georgia 30322, USA., Devine SE; Graduate Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Greenebaum Cancer Center, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA;

المصدر: Genome research [Genome Res] 2016 Jun; Vol. 26 (6), pp. 745-55. Date of Electronic Publication: 2016 May 10.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Regulation, Neoplastic* , Mutagenesis, Insertional*, Adenocarcinoma/*genetics , Colorectal Neoplasms/*genetics , Retroelements/*genetics, Adenomatous Polyposis Coli Protein/genetics ; Carcinogenesis/genetics ; DNA Mutational Analysis ; Female ; Gene Silencing ; Humans ; Microsatellite Instability ; Middle Aged

المؤلفون: Datta A, Chuang NT, Wen YS, Huang JH, Sheu SC

المصدر: Acta crystallographica. Section E, Structure reports online [Acta Crystallogr Sect E Struct Rep Online] 2011 Oct 01; Vol. 67 (Pt 10), pp. m1388. Date of Electronic Publication: 2011 Sep 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101089178 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-5368 (Electronic) Linking ISSN: 16005368 NLM ISO Abbreviation: Acta Crystallogr Sect E Struct Rep Online Subsets: PubMed not MEDLINE

المؤلفون: Jhang PC; Department of Chemistry, National Tsing Hua University, 101, Section 2, Kuang-Fu Road, Hsinchu, Taiwan 30013., Chuang NT, Wang SL

المصدر: Angewandte Chemie (International ed. in English) [Angew Chem Int Ed Engl] 2010 Jun 07; Vol. 49 (25), pp. 4200-4.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 0370543 Publication Model: Print Cited Medium: Internet ISSN: 1521-3773 (Electronic) Linking ISSN: 14337851 NLM ISO Abbreviation: Angew Chem Int Ed Engl Subsets: PubMed not MEDLINE