المؤلفون: Karen H. Miga, Sergey Koren, Arang Rhie, Mitchell R. Vollger, Ariel Gershman, Andrey Bzikadze, Shelise Brooks, Edmund Howe, David Porubsky, Glennis A. Logsdon, Valerie A. Schneider, Tamara

المصدر: Nature, Nature. 585(7823):79-84

الإتاحة: https://ideas.repec.org/a/nat/nature/v585y2020i7823d10.1038_s41586-020-2547-7.html

المؤلفون: Nicolas Altemose, Glennis A. Logsdon, Andrey V. Bzikadze, Pragya Sidhwani, Sasha A. Langley, Gina V. Caldas, Savannah J. Hoyt, Lev Uralsky, Fedor D. Ryabov, Colin J. Shew, Michael E. G. Sauria, Matthew Borchers, Ariel Gershman, Alla Mikheenko, Valery A. Shepelev, Tatiana Dvorkina, Olga Kunyavskaya, Mitchell R. Vollger, Arang Rhie, Ann M. McCartney, Mobin Asri, Ryan Lorig-Roach, Kishwar Shafin, Julian K. Lucas, Sergey Aganezov, Daniel Olson, Leonardo Gomes de Lima, Tamara Potapova, Gabrielle A. Hartley, Marina Haukness, Peter Kerpedjiev, Fedor Gusev, Kristof Tigyi, Shelise Brooks, Alice Young, Sergey Nurk, Sergey Koren, Sofie R. Salama, Benedict Paten, Evgeny I. Rogaev, Aaron Streets, Gary H. Karpen, Abby F. Dernburg, Beth A. Sullivan, Aaron F. Straight, Travis J. Wheeler, Jennifer L. Gerton, Evan E. Eichler, Adam M. Phillippy, Winston Timp, Megan Y. Dennis, Rachel J. O’Neill, Justin M. Zook, Michael C. Schatz, Pavel A. Pevzner, Mark Diekhans, Charles H. Langley, Ivan A. Alexandrov, Karen H. Miga

المصدر: Science

مصطلحات موضوعية: Multidisciplinary, Genome, Human, Centromere, Chromosome Mapping, Genomics, Computational biology, Biology, Article, Epigenesis, Genetic, Evolution, Molecular, Humans, Epigenetics, Preprint, Repetitive Sequences, Nucleic Acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d6fdde181caa00d2a2585b6b9de02d9
https://doi.org/10.1101/2021.07.12.452052

المؤلفون: Sirintorn Stantripop, Sean Black, Ricardo D’Oliveira Albanus, S. L. Ho, John P. Didion, Beatrice B. Barnabas, Francis S. Collins, Brian P. Schmidt, Peter Orchard, Quino Maduro, Casandra Montemayor, Christina Sison, Karen L. Mohlke, Hannah J Perrin, K. Alaine Broadaway, Alice C. Young, Juyun Kim, Morgan Park, Laura J. Scott, Swarooparani Vadlamudi, Erin G. Schuetz, Karen Schandler, Narisu Narisu, James W. Thomas, Richelle Legaspi, Shelise Brooks, Gerard G. Bouffard, Joel Han, Federico Innocenti, Nancy Riebow, Vivek Rai, Lyudmila Dekhtyar, James C. Mullikin, Stephen C. J. Parker, Michael R. Erdos, Holly Coleman, Tingfen Yan, Catherine A. Masiello, Lori L. Bonnycastle, Jacqueline R. Idol, Amarjit S. Chaudhry, Jennifer C. McDowell, Kevin W Currin, Meghana Vemulapalli, Pamela J. Thomas, Amy S. Etheridge

المصدر: Am J Hum Genet

مصطلحات موضوعية: Amino Acid Motifs, Quantitative Trait Loci, Locus (genetics), ATAC-seq, Genome-wide association study, Biology, Quantitative trait locus, Article, 03 medical and health sciences, 0302 clinical medicine, Genetics, Humans, Promoter Regions, Genetic, Genetics (clinical), 030304 developmental biology, Epigenomics, 0303 health sciences, Binding Sites, Genetic Variation, Chromatin Assembly and Disassembly, Chromatin, Enhancer Elements, Genetic, Liver, Expression quantitative trait loci, Liver function, Transcriptome, 030217 neurology & neurosurgery, Genome-Wide Association Study, Protein Binding, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bebdd55fe1d80ed53db25b6e571c5a0
https://pubmed.ncbi.nlm.nih.gov/34038741

المؤلفون: David Porubsky, Gulhan Kaya, Ruta Sahasrabudhe, James C. Mullikin, Joel Armstrong, Amy B. Wilfert, Jonathan Wood, Edmund Howe, Ariel Gershman, Amalia Dutra, Jon Matthew Belton, Alexander M. Chang, Karen H. Miga, Valerie A. Schneider, Adam M. Phillippy, Alice Young, Andrey Bzikadze, Tamara A. Potapova, Rosa Ana Risques, Anthony D. Schmitt, Tina A. Graves Lindsay, Gerard G. Bouffard, Nancy F. Hansen, Benedict Paten, Josh Quick, Ira M. Hall, Glennis A. Logsdon, Sergey Koren, Kristof Tigyi, Nadine Holmes, Daniela C. Soto, Beth A. Sullivan, Jeanne Fredrickson, Robert S. Fulton, Siddarth Selvaraj, Milinn Kremitzki, Winston Timp, Nicholas J. Loman, Arang Rhie, Evan E. Eichler, Megan Y. Dennis, Kerstin Howe, Jennifer L. Gerton, Urvashi Surti, Valerie Maduro, Christopher Markovic, Pavel A. Pevzner, Françoise Thibaud-Nissen, William Chow, Shelise Brooks, Evgenia Pak, Matthew Loose, Mitchell R. Vollger

المصدر: Nature, vol 585, iss 7823
Nature

مصطلحات موضوعية: Male, General Science & Technology, Pseudoautosomal region, Centromere, Computational biology, DNA, Satellite, Biology, Genome informatics, Genome, DNA sequencing, Article, Chromosomes, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Genome assembly algorithms, Testis, Genetics, Humans, Telomere assembly, X chromosome, 030304 developmental biology, Segmental duplication, 0303 health sciences, Chromosomes, Human, X, Multidisciplinary, Genome, Human, Human Genome, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Sequence Analysis, DNA, Hydatidiform Mole, DNA, Telomere, DNA Methylation, Human genetics, Satellite, Human genome, CpG Islands, Female, Nanopore sequencing, Generic health relevance, 030217 neurology & neurosurgery, Reference genome, Biotechnology, Human

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b763e6dc69f68a2c414f6d2d8a9e4a86
https://escholarship.org/uc/item/88w7j3n7

المؤلفون: Carsten G. Bönnemann, Francis J. McMahon, Quino Maduro, Alan T. Remaley, Brian P. Brooks, Sirintorn Stantripop, Jennifer C. McDowell, Kendall L. Umstead, Gerard G. Bouffard, Erin Turbitt, Catherine A. Masiello, Karen Schandler, Jeffrey Baron, Jennifer J. Johnston, Beatrice B. Barnabas, Richelle Legaspi, James W. Thomas, Holly Coleman, Eileen Pelayo, Barbara B. Biesecker, D. Nadine Dogbe, Ilias Alevizos, Joel Moss, W. Marston Linehan, Helen C. Su, Casandra Montemayor, Brian Schmidt, Alice C. Young, Morgan Park, Meghana Vemulapalli, Richard M. Siegel, Pamela J. Thomas, Chanthra Scharer, Youn Hee Jee, Deborah Nielsen, Carlos A. Zarate, Christina Sison, Leslie G. Biesecker, Alexis R Heidlebaugh, Sandra Donkervoort, Nancy Riebow, Shelise Brooks, James C. Mullikin, Teri A. Manolio, Julie C. Sapp, Xiaobin Guan, Ane Miren Sagardia, S. L. Ho, Kate Driscoll, Joel Han, Lyudmila Dekhtyar

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, media_common.quotation_subject, Genetic counseling, Specialty, Genetic Counseling, Pilot Projects, 030105 genetics & heredity, Article, 03 medical and health sciences, 0302 clinical medicine, Health care, Genetics, medicine, Humans, Exome, Genetics (clinical), Exome sequencing, media_common, Protocol (science), Receipt, Genetics & Heredity, Incidental Findings, business.industry, Psychologic distress, Genomics, Middle Aged, Surprise, 030220 oncology & carcinogenesis, Family medicine, Female, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f8f30234ebb7d1b8ff21c42057bf2c8
https://europepmc.org/articles/PMC6128311/

المؤلفون: John R. Mascola, Quino Maduro, Christina Sison, Jenny McDowell, Chaim A. Schramm, Lawrence Shapiro, Brian P. Schmidt, Betty Benjamin, Karen Schandler, Cathy Masiello, Richelle Legaspi, Pam Thomas, James Thomas, Zizhang Sheng, Nisc Comparative Sequencing Program, Raymond Arthur Smith, Jessica Rosarda, Xiaobin Guan, Shelise Brooks, James C. Mullikin, Mila Dekhtyar, Nancy Riebow, Joel Han, Gerry Bouffard, Holly Coleman, Casandra Montemayor, Meg Vemulapalli, Mal Stantripop, Peter D. Kwong, Rui Kong, Alice Young, Morgan Park, Shi ling Ho

المصدر: Frontiers in Immunology
Frontiers in Immunology, Vol 8 (2017)

مصطلحات موضوعية: 0301 basic medicine, lcsh:Immunologic diseases. Allergy, Immunology, Somatic hypermutation, Context (language use), antibodyomics, Biology, broadly neutralizing antibody, 03 medical and health sciences, 0302 clinical medicine, Methods, Immunology and Allergy, Nucleotide, Mutation frequency, Allele, Gene, chemistry.chemical_classification, Genetics, B cell ontogeny, mutation frequency, Amino acid, repertoire diversity, Global Boundary Stratotype Section and Point, 030104 developmental biology, chemistry, lcsh:RC581-607, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56819f330845f00b676af91b1c7b420a
https://pubmed.ncbi.nlm.nih.gov/28539926

المؤلفون: Sean Lovett, Stephen C. J. Parker, Holly Coleman, Narisu Narisu, D. Leland Taylor, Morgan Park, Len A. Pennacchio, Taccara Johnson, Jenny McDowell, Baishali Maskeri, Meg Vemulapalli, Axel Visel, April Hargrove, Jennifer A. Akiyama, James Thomas, Michael R. Erdos, Cathy Masiello, Michael D. Gregory, Brian L. Schmidt, Peter S. Chines, Michael L. Stitzel, Quino Maduro, Betty Benjamin, Shi-ling Ho, Robert W. Blakesley, Xiaobin Guan, Francis S. Collins, Karen Schandler, Mal Stantripop, Casandra Montemayor, Richelle Legaspi, Jesse Becker, Kelly Lammerts van Bueren, Alice Young, Nancy Riebow, James C. Mullikin, Christina Sison, Jyoti Gupta, Nisc Comparative Sequencing Program, Mila Dekhtyar, Joel Han, Jose M. Orozco, Brian L. Black, Pam Thomas, Shelise Brooks, Gerry Bouffard

المصدر: Proceedings of the National Academy of Sciences. 110:17921-17926

مصطلحات موضوعية: Epigenomics, Chromatin Immunoprecipitation, Cellular differentiation, Mice, Transgenic, Enhancer RNAs, Biology, Mice, Super-enhancer, Insulin-Secreting Cells, Animals, Humans, Luciferases, Enhancer, Gene, Genetics, Multidisciplinary, Gene Expression Profiling, High-Throughput Nucleotide Sequencing, Cell Differentiation, Biological Sciences, Chromatin, Enhancer Elements, Genetic, Diabetes Mellitus, Type 2, Gene Expression Regulation, Chromatin immunoprecipitation, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec2966a51d8f04562c79bd26ef7f5490
https://doi.org/10.1073/pnas.1317023110

المؤلفون: Steven A. Rosenberg, Quino Maduro, Sean Lovett, Hannah Carter, Laura Elnitski, Sean Davis, Betty Benjamin, Nicholas K. Hayward, J. Lin, Michael D. Gregory, Chava Kimchi-Sarfaty, James Thomas, Michael A. Davies, Michael L. Stitzel, Rachel Karchin, Alice Young, Pam Thomas, Xiaobin Guan, Casandra Montemayor, Jesse Becker, Jamie K. Teer, Nancy Riebow, Shelise Brooks, Elliott H. Margulies, Gerry Bouffard, Holly Coleman, Jyoti Gupta, Brian L. Schmidt, Morgan Park, James C. Mullikin, Karen Schandler, Francis S. Collins, Cathy Masiello, Xiaomu Wei, Baishali Maskeri, Sujata Jha, William A. Robinson, Richelle Legaspi, Yardena Samuels, Shi-ling Ho, Steven E. Robinson, Christina Sison, Ken Dutton-Regester, Meg Vemulapalli, Todd D. Prickett, Jenny McDowell, Valer Gotea, Taccara Johnson, Nobuko H. Katagiri, Robert W. Blakesley, Umesh Bhanot, Guo Chen, Vijaya L. Simhadri, Stephen C. J. Parker, Jared J. Gartner, Mal Stantripop, Mila Dekhtyar, Jeffrey E. Gershenwald, Joel Han, Mario A. Morken, Giovanni Parmigiani, April Hargrove, Anton A. Komar

المصدر: Proceedings of the National Academy of Sciences. 110:13481-13486

مصطلحات موضوعية: Silent mutation, Mutation rate, Blotting, Western, Genetic Vectors, Molecular Sequence Data, Mutant, Muscle Proteins, Apoptosis, Biology, Real-Time Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Germline mutation, Humans, Immunoprecipitation, Exome, RNA, Small Interfering, Melanoma, Exome sequencing, DNA Primers, Whole genome sequencing, Genetics, Multidisciplinary, Base Sequence, Genome, Human, Lentivirus, Sequence Analysis, DNA, Biological Sciences, Molecular biology, MicroRNAs, HEK293 Cells, Gene Expression Regulation, Proto-Oncogene Proteins c-bcl-2, Mutation, Tumor Suppressor Protein p53, Synonymous substitution

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73128767d86eb42c6e030e181b9b629f
https://doi.org/10.1073/pnas.1304227110

المؤلفون: John R. Mascola, Yongping Yang, Melissa Simek, S. Munir Alam, Christina Sison, Sean Lovett, April Hargrove, Julie Blinn, Robert W. Blakesley, Cathy Masiello, Nancy Riebow, Lawrence Shapiro, James C. Mullikin, Gabriel Lu, Jeff Skinner, Dennis R. Burton, Krisha McKee, Pam Thomas, Barton F. Haynes, Joshua Eudailey, Shi-ling Ho, Betty Benjamin, Nisc Comparative Sequencing Program, Holly Coleman, Jiang Zhu, Quino Maduro, Zhenhai Zhang, Mila Dekhtyar, Gilad Ofek, Karen Schandler, Joel Han, Richelle Legaspi, Jenny McDowell, Taccara Johnson, Mal Stantripop, Jesse Becker, Krissey E. Lloyd, James Thomas, Shelise Brooks, Gerry Bouffard, Alice Young, Baoshan Zhang, Meg Vemulapalli, Brian L. Schmidt, Marie Pancera, Peter D. Kwong, Mark K. Louder, Baishali Maskeri, Morgan Park, Robert Parks, Jyoti Gupta, Michael D. Gregory, Wayne C. Koff, Xiaobin Guan, Casandra Montemayor

المصدر: Proceedings of the National Academy of Sciences. 110:6470-6475

مصطلحات موضوعية: Models, Molecular, Molecular Sequence Data, Enzyme-Linked Immunosorbent Assay, Sequence alignment, Biology, Immunoglobulin light chain, DNA sequencing, Neutralization Tests, Phylogenetics, Databases, Genetic, Humans, Amino Acid Sequence, Peptide sequence, Phylogeny, Genetics, Multidisciplinary, Phylogenetic tree, Computational Biology, High-Throughput Nucleotide Sequencing, Biological Sciences, Antibodies, Neutralizing, HIV-1, Pyrosequencing, Immunoglobulin heavy chain, Immunoglobulin Light Chains, Immunoglobulin Heavy Chains, Sequence Alignment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b087750599718ed65d8607625ce81ff2
https://doi.org/10.1073/pnas.1219320110

المؤلفون: Joy Y. Yang, Adrian M. Zelazny, Shelise Brooks, Evan S. Snitkin, Robert R. Blakesley, Julia A. Segre, Jennifer A. Meyer

المصدر: Journal of Clinical Microbiology. 51:752-758

مصطلحات موضوعية: Microbiology (medical), Bacterial genome size, Polymerase Chain Reaction, Genome, law.invention, law, Humans, Typing, Polymerase chain reaction, DNA Primers, Whole genome sequencing, Genetics, Molecular Epidemiology, Bacteria, biology, Computational Biology, Bacteriology, Bacterial Infections, biology.organism_classification, Acinetobacter baumannii, Molecular Typing, Multilocus sequence typing, Algorithms, Genome, Bacterial, Software, In silico PCR

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::341803a64736ccf0e4ad9fd25f990a66
https://doi.org/10.1128/jcm.02671-12