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1دورية أكاديمية
المؤلفون: Jason C Bell, David Jukam, Nicole A Teran, Viviana I Risca, Owen K Smith, Whitney L Johnson, Jan M Skotheim, William James Greenleaf, Aaron F Straight
المصدر: eLife, Vol 7 (2018)
مصطلحات موضوعية: RNA, chromatin, dosage compensation, transcription, genomics, non-coding RNA, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Shan Dong, Michael F. Walker, Nicholas J. Carriero, Michael DiCola, A. Jeremy Willsey, Adam Y. Ye, Zainulabedin Waqar, Luis E. Gonzalez, John D. Overton, Stephanie Frahm, John F. Keaney, III, Nicole A. Teran, Jeanselle Dea, Jeffrey D. Mandell, Vanessa Hus Bal, Catherine A. Sullivan, Nicholas M. DiLullo, Rehab O. Khalil, Jake Gockley, Zafer Yuksel, Sinem M. Sertel, A. Gulhan Ercan-Sencicek, Abha R. Gupta, Shrikant M. Mane, Michael Sheldon, Andrew I. Brooks, Kathryn Roeder, Bernie Devlin, Matthew W. State, Liping Wei, Stephan J. Sanders
المصدر: Cell Reports, Vol 9, Iss 1, Pp 16-23 (2014)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Charles Limouse, Kelsey A. Fryer, Kousik Sundararajan, Owen K. Smith, Aaron F. Straight, Nicole A. Teran, Rebecca Heald
المصدر: Genome Research. 31:958-967
مصطلحات موضوعية: 0303 health sciences, CENPA, Xenopus, Chromosome, Biology, biology.organism_classification, Spindle apparatus, Cell biology, Histone H3, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, chemistry, Centromere Protein A, Centromere, Genetics, Nucleosome, 030217 neurology & neurosurgery, Genetics (clinical), DNA, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::522d2caf782581e8adade75eea483002
https://doi.org/10.1101/gr.267781.120 -
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المؤلفون: Diane B. Zastrow, Cameron J. Prybol, Jason D. Merker, Benjamin J. Strober, Euan A. Ashley, Zachary Zappala, Jennefer N. Kohler, Sowmithri Utiramerur, Chloe M. Reuter, Xin Li, Kevin S. Smith, Alexis Battle, Joe R. Davis, Craig Smail, Devon Bonner, Taila Hartley, Shruti Marwaha, Matthew T. Wheeler, Boxiang Liu, Stephen B. Montgomery, Nicole M. Ferraro, Lars Lind, Dianna G. Fisk, Brunilda Balliu, Nicole A. Teran, Erik Ingelsson, Laure Fresard, Gill Bejerano, Megan E. Grove, Ruchi Joshi, Kym M. Boycott, Jonathan A. Bernstein, Kristin D. Kernohan, Jean M. Davidson
المصدر: Nature medicine
مصطلحات موضوعية: Male, 0301 basic medicine, Oxidoreductases Acting on CH-CH Group Donors, Candidate gene, medicine.medical_specialty, Potassium Channels, Acid Ceramidase, RNA Splicing, Disease, Biology, Bioinformatics, Article, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, Cohort Studies, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Child, Exome sequencing, Models, Genetic, Sequence Analysis, RNA, Case-control study, Genetic Variation, General Medicine, Disease gene identification, 3. Good health, 030104 developmental biology, Case-Control Studies, Child, Preschool, 030220 oncology & carcinogenesis, Mutation, RNA, Medical genetics, Female, Rare disease
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المؤلفون: Manuel A. Rivas, Craig Smail, Stephen B. Montgomery, Daniel Nachun, Nicole M. Ferraro, Tiffany Eulalio, Nicole A. Teran
المصدر: Am J Hum Genet
مصطلحات موضوعية: In silico, Nonsense-mediated decay, Computational biology, Biology, Genome, Article, 03 medical and health sciences, 0302 clinical medicine, Text mining, Gene Frequency, Genotype-Tissue Expression, Genetics, Humans, RNA, Messenger, Allele frequency, Genetics (clinical), 030304 developmental biology, 0303 health sciences, business.industry, Genetic Diseases, Inborn, RNA, Genetic Variation, Nonsense Mediated mRNA Decay, Minor allele frequency, Gene Expression Regulation, Codon, Nonsense, Allelic Imbalance, Mutation, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f19f87e9f52f40665faf990ac8ad004a
https://pubmed.ncbi.nlm.nih.gov/34216550 -
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المؤلفون: Deborah C. Mash, Kevin S. Smith, Lappalainen T, Jeffrey A. Thomas, Rajinder Kaul, Paul Flicek, Maghboeba Mosavel, Yuxin Zou, Barbara E. Stranger, Brandon L. Pierce, Yanyu Liang, Andrew R. Hamel, Lihua Jiang, Marcus Hunter, Jimmie B. Vaught, Hae Kyung Im, John M. Rouhana, François Aguet, Ferran Reverter, Jason Bridge, Farzana Jasmine, Scott D. Jewell, William F. Leinweber, Gad Getz, Jonah Einson, Kevin Myer, SE Castel, Barbara E. Engelhardt, Stephen B. Montgomery, Brunilda Balliu, Gary Walters, Helen M. Moore, Daniel Nachun, Zerbino, Lori E. Brigham, Gao Wang, Farhad Hormozdiari, Pejman Mohammadi, Kasper D. Hansen, Nicole A. Teran, Fred A. Wright, Bryan Gillard, Sarah Kim-Hellmuth, CC Powell, Susan E. Koester, Wucher, Aaron Graubert, Duyen T. Nguyen, Shin Lin, Mike Moser, John A. Stamatoyannopoulos, Liqun Qi, Princy Parsana, Peter Hickey, Latarsha J. Carithers, Saboor Shad, Eric R. Gamazon, Jennifer A. Doherty, Stephen J. Trevanion, Kane Hadley, Kate R. Rosenbloom, Anita H. Undale, Robert E. Handsaker, Debra Bradbury, Shankara Anand, Meng Wang, David E. Tabor, Karna Robinson, S. Gabriel, Esti Yeger-Lotem, Kimberly Ramsey, Mary Barcus, Daniel G. MacArthur, Yuan He, Nancy Roche, Alvaro N. Barbeira, Ayellet V. Segrè, Dan Sheppard, Souvik Das, AR Little, Nathan S. Abell, Xiaoquan Wen, Elise D. Flynn, Nicole M. Ferraro, Hua Tang, Jared L. Nedzel, Jessica Wheeler, Abhi Rao, Meier, Thomas Juettemann, Sandra Linder, Bruce A. Roe, Daniel J. Cotter, David A. Davis, Christopher Johns, Lin Chen, Seva Kashin, Muhammad G. Kibriya, Ana Viñuela, Ellen Todres, Ashis Saha, Matthew Stephens, Chiara Sabatti, Manolis Kellis, Laura A. Siminoff, Phillip Branton, Xiao Li, Michael Snyder, Kathryn Demanelis, Gen Li, Barbara A. Foster, Leslie H. Sobin, Simona Volpi, Magali Ruffier, Christopher D. Brown, Ping Guan, Benjamin J. Strober, Alexis Battle, Michael J. Gloudemans, Silva Kasela, Manuel Muñoz-Aguirre, Ellen Karasik, OM deGoede, Roderic Guigó, Michael Washington, Alisa McDonald, Andrew A. Brown, Meritxell Oliva, Kieron Taylor, Nancy J. Cox, Daniel C. Rohrer, Paul J. Hoffman, Gene Kopen, Qin Li, Andrew D Skol, Rodrigo Bonazzola, Tiffany Eulalio, Mark H. Johnson, Laure Fresard, Lindsay F. Rizzardi, Abhiram Rao, T Krubit, W. J. Kent, Alan Kwong, Anna M. Smith, Pedro G. Ferreira, HM Gardiner, Andrew P. Feinberg, Rick Hasz, Lei Hou, Marta Melé, Andrew B. Nobel, Katherine H. Huang, Laura Barker, Maximilian Haeussler, Kristin G. Ardlie, Concepcion R. Nierras, Christopher Lee, Joshua M. Akey, Eskin E, Jeffrey McLean, Donald F. Conrad, Jin Billy Li, YoSon Park, Serghei Mangul, Emmanouil T. Dermitzakis, Brian Jo, D Garrido-Martin
المساهمون: Barcelona Supercomputing Center
مصطلحات موضوعية: Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC], 0303 health sciences, Linkage disequilibrium, Multidisciplinary, Genotype-Tissue Expression (GTEx), Atlas (topology), Human tissues, Cancer susceptibility, Diseases, Genome-wide association study, RNA-Seq, Computational biology, Biology, Expressió gènica, Human genetics, 03 medical and health sciences, Tissues, 0302 clinical medicine, Allelic heterogeneity, Gene expression, Genètica, 030217 neurology & neurosurgery, 030304 developmental biology, Teixits (Histologia)
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::750f7e68291b1839a3351deae498ad1b
http://hdl.handle.net/2445/195117 -
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المؤلفون: Owen K, Smith, Charles, Limouse, Kelsey A, Fryer, Nicole A, Teran, Kousik, Sundararajan, Rebecca, Heald, Aaron F, Straight
المصدر: Genome Res
مصطلحات موضوعية: Xenopus laevis, Research, Centromere, Animals, Centromere Protein A, Chromatin, Nucleosomes, Repetitive Sequences, Nucleic Acid
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1be644ccfd50e8627a5d9be9fe901cdc
https://pubmed.ncbi.nlm.nih.gov/33875480 -
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المؤلفون: Nancy J. Cox, Sayantan Das, Abhi Rao, Pejman Mohammadi, Alan Kwong, Brandon L. Pierce, Yanyu Liang, Yuxin Zou, Anna M. Smith, Matthew Stephens, Chiara Sabatti, Yuan He, Kasper D. Hansen, Lei Hou, Meritxell Oliva, W. James Kent, Stacey Gabriel, Andrew R. Hame, Tanya Krubit, Gary Walters, Lori E. Brigham, Gao Wang, Kevin S. Smith, Michael J. Gloudemans, Barbara E. Engelhardt, Yongjin Park, Nicole A. Teran, David A. Davis, Thomas Juettemann, Kimberley Ramsey, Fred A. Wright, Lin Chen, Valentin Wucher, Benjamin J. Strober, Duyen T. Nguyen, Eleazar Eskin, Kane Hadley, Deborah C. Mash, Michael Snyder, Sarah Kim-Hellmuth, Laura A. Siminoff, Maghboeba Mosavel, Shin Lin, Richard Hasz, Daniel C. Rohrer, Latarsha J. Carithers, Kevin Myer, Rajinder Kaul, Andrew D. Skol, Bryan Gillard, Dana R. Valley, Philip A. Branton, Stephane E. Castel, Robert E. Handsaker, Debra Bradbury, Meng Wang, Mary Barcus, Xiaoquan Wen, Hua Tang, Daniel J. Cotter, Lihua Jiang, Jason Bridge, Ashis Saha, Gen Li, Susan E. Koester, Qin Li, Mark H. Johnson, Barbara E. Stranger, Jimmie B. Vaught, Hae Kyung Im, Paul Flicek, Marcus Hunter, François Aguet, Elise D. Flynn, Sandra Linder, Nancy Roche, Daniel R. Zerbino, Xiao Li, Barbara A. Foster, Stephen B. Montgomery, Daniel Nachun, Serghei Mangul, Emmanouil T. Dermitzakis, Brian Jo, Simona Volpi, Farzana Jasmine, Scott D. Jewell, Jonah Einson, Tuuli Lappalainen, Farhad Hormozdiari, John M. Rouhana, Ana Viñuela, Daniel G. MacArthur, William F. Leinweber, Gad Getz, Peter Hickey, Eric R. Gamazon, Brunilda Balliu, Jennifer A. Doherty, Christopher D. Brown, Roderic Guigó, Gene Kopen, Rodrigo Bonazzola, Pedro G. Ferreira, Andrew P. Feinberg, Shankara Anand, Helen M. Moore, Paul J. Hoffman, Heather M. Gardiner, Ping Guan, Ferran Reverter, Jin Billy Li, Tiffany Eulalio, Joseph Wheeler, Alvaro N. Barbeira, Jared L. Nedzel, Seva Kashin, Laure Fresard, Lindsay F. Rizzardi, Abhiram Rao, Muhammad G. Kibriya, David Tabor, Leslie H. Sobin, A. Roger Little, Stephen J. Trevanion, Nicole M. Ferraro, Kate R. Rosenbloom, John A. Stamatoyannopoulos, Liqun Qi, Princy Parsana, Ayellet V. Segrè, Dan Sheppard, Nathan S. Abell, Kathryn Demanelis, Manolis Kellis, Silva Kasela, Xin Li, Conner C. Powell, YoSon Park, Michael Washington, Magali Ruffier, Saboor Shad, Christopher Johns, Jeffrey A. Thomas, Andrew Brown, Alisa McDonald, Karna Robinson, Esti Yeger-Lotem, Manuel Muñoz-Aguirre, Kieron Taylor, Marta Melé, Diego Garrido-Martín, Brian Roe, Michael T. Moser, Andrew B. Nobel, Alexis Battle, Maximilian Haeussler, Concepcion R. Nierras, Ellen Karasik, Sam Meier, Anita H. Undale, Ellen Todres, Aaron Graubert, Joshua M. Akey, Jeffrey McLean, Donald F. Conrad, Olivia M. De Goede, Katherine H. Huang, Laura Barker, Kristin G. Ardlie, Christopher Lee
المصدر: Genome Biology, Vol 21, Iss 1, Pp 1-12 (2020)
Genome Biologyمصطلحات موضوعية: animal structures, Future studies, lcsh:QH426-470, Short Report, Gene Expression, Genomics, Computational biology, Biology, eQTL, Polymorphism, Single Nucleotide, ASE, Regulatory variation, 03 medical and health sciences, 0302 clinical medicine, Resource (project management), Humans, SNP, Allele, lcsh:QH301-705.5, Alleles, Allele specific, 030304 developmental biology, 0303 health sciences, Allelic expression, Genome, Human, Sequence Analysis, RNA, Haplotype, Functional genomics, Human genetics, lcsh:Genetics, Haplotypes, lcsh:Biology (General), Expression data, Expression quantitative trait loci, GTEx, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fddfebf856337cc6189fbe1de49662
http://hdl.handle.net/10230/45398 -
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المؤلفون: Olivia M. de Goede, Daniel C. Nachun, Nicole M. Ferraro, Michael J. Gloudemans, Abhiram S. Rao, Craig Smail, Tiffany Y. Eulalio, François Aguet, Bernard Ng, Jishu Xu, Alvaro N. Barbeira, Stephane E. Castel, Sarah Kim-Hellmuth, YoSon Park, Alexandra J. Scott, Benjamin J. Strober, Christopher D. Brown, Xiaoquan Wen, Ira M. Hall, Alexis Battle, Tuuli Lappalainen, Hae Kyung Im, Kristin G. Ardlie, Sara Mostafavi, Thomas Quertermous, Karla Kirkegaard, Stephen B. Montgomery, Shankara Anand, Stacey Gabriel, Gad A. Getz, Aaron Graubert, Kane Hadley, Robert E. Handsaker, Katherine H. Huang, Xiao Li, Daniel G. MacArthur, Samuel R. Meier, Jared L. Nedzel, Duyen T. Nguyen, Ayellet V. Segrè, Ellen Todres, Brunilda Balliu, Rodrigo Bonazzola, Andrew Brown, Donald F. Conrad, Daniel J. Cotter, Nancy Cox, Sayantan Das, Emmanouil T. Dermitzakis, Jonah Einson, Barbara E. Engelhardt, Eleazar Eskin, Elise D. Flynn, Laure Fresard, Eric R. Gamazon, Diego Garrido-Martín, Nicole R. Gay, Roderic Guigó, Andrew R. Hamel, Yuan He, Paul J. Hoffman, Farhad Hormozdiari, Lei Hou, Brian Jo, Silva Kasela, Seva Kashin, Manolis Kellis, Alan Kwong, Xin Li, Yanyu Liang, Serghei Mangul, Pejman Mohammadi, Manuel Muñoz-Aguirre, Andrew B. Nobel, Meritxell Oliva, Yongjin Park, Princy Parsana, Ferran Reverter, John M. Rouhana, Chiara Sabatti, Ashis Saha, Matthew Stephens, Barbara E. Stranger, Nicole A. Teran, Ana Viñuela, Gao Wang, Fred Wright, Valentin Wucher, Yuxin Zou, Pedro G. Ferreira, Gen Li, Marta Melé, Esti Yeger-Lotem, Debra Bradbury, Tanya Krubit, Jeffrey A. McLean, Liqun Qi, Karna Robinson, Nancy V. Roche, Anna M. Smith, David E. Tabor, Anita Undale, Jason Bridge, Lori E. Brigham, Barbara A. Foster, Bryan M. Gillard, Richard Hasz, Marcus Hunter, Christopher Johns, Mark Johnson, Ellen Karasik, Gene Kopen, William F. Leinweber, Alisa McDonald, Michael T. Moser, Kevin Myer, Kimberley D. Ramsey, Brian Roe, Saboor Shad, Jeffrey A. Thomas, Gary Walters, Michael Washington, Joseph Wheeler, Scott D. Jewell, Daniel C. Rohrer, Dana R. Valley, David A. Davis, Deborah C. Mash, Mary E. Barcus, Philip A. Branton, Leslie Sobin, Laura K. Barker, Heather M. Gardiner, Maghboeba Mosavel, Laura A. Siminoff, Paul Flicek, Maximilian Haeussler, Thomas Juettemann, W. James Kent, Christopher M. Lee, Conner C. Powell, Kate R. Rosenbloom, Magali Ruffier, Dan Sheppard, Kieron Taylor, Stephen J. Trevanion, Daniel R. Zerbino, Nathan S. Abell, Joshua Akey, Lin Chen, Kathryn Demanelis, Jennifer A. Doherty, Andrew P. Feinberg, Kasper D. Hansen, Peter F. Hickey, Farzana Jasmine, Lihua Jiang, Rajinder Kaul, Muhammad G. Kibriya, Jin Billy Li, Qin Li, Shin Lin, Sandra E. Linder, Brandon L. Pierce, Lindsay F. Rizzardi, Andrew D. Skol, Kevin S. Smith, Michael Snyder, John Stamatoyannopoulos, Hua Tang, Meng Wang, Latarsha J. Carithers, Ping Guan, Susan E. Koester, A. Roger Little, Helen M. Moore, Concepcion R. Nierras, Abhi K. Rao, Jimmie B. Vaught, Simona Volpi
المصدر: Cell
مصطلحات موضوعية: Multifactorial Inheritance, Population, Quantitative Trait Loci, Coronary Artery Disease, Disease, Computational biology, Quantitative trait locus, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, Humans, education, Gene, 030304 developmental biology, 0303 health sciences, education.field_of_study, Gene Expression Profiling, Genetic Variation, Inflammatory Bowel Diseases, Long non-coding RNA, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Organ Specificity, Expression quantitative trait loci, Trait, RNA, Long Noncoding, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::557f936307744ad75495f8a544a29ccd
https://doi.org/10.1016/j.cell.2021.03.050 -
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المؤلفون: Megan E. Grove, Nicole A. Teran, Erik Ingelsson, Prybol Cj, Dianna G. Fisk, Kym M. Boycott, Kristin D. Kernohan, Jean M. Davidson, Sowmithri Utiramerur, Devon Bonner, Ashley Ea, Jonathan A. Bernstein, Kevin S. Smith, Alexis Battle, Diane B. Zastrow, Taila Hartley, Gill Bejerano, Shruti Marwaha, Stephen B. Montgomery, Brunilda Balliu, Ruchi Joshi, Craig Smail, Jason D. Merker, Benjamin J. Strober, Jennefer N. Kohler, Xin Li, Zappala Z, Nicole M. Ferraro, Lars Lind, Laure Fresard, Boxiang Liu, Matthew T. Wheeler, Davis
مصطلحات موضوعية: 0303 health sciences, Microcephaly, business.industry, Disease, Compound heterozygosity, medicine.disease, Bioinformatics, Disease gene identification, Hypotonia, 3. Good health, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Mendelian inheritance, symbols, Global developmental delay, medicine.symptom, business, 030217 neurology & neurosurgery, 030304 developmental biology, Rare disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75426272a8392f71bd9edd7137d9d0df