نتائج البحث - "Allison A Regier"

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دورية أكاديمية

Genome Modeling System: A Knowledge Management Platform for Genomics.

المؤلفون: Malachi Griffith, Obi L Griffith, Scott M Smith, Avinash Ramu, Matthew B Callaway, Anthony M Brummett, Michael J Kiwala, Adam C Coffman, Allison A Regier, Ben J Oberkfell, Gabriel E Sanderson, Thomas P Mooney, Nathaniel G Nutter, Edward A Belter, Feiyu Du, Robert L Long, Travis E Abbott, Ian T Ferguson, David L Morton, Mark M Burnett, James V Weible, Joshua B Peck, Adam Dukes, Joshua F McMichael, Justin T Lolofie, Brian R Derickson, Jasreet Hundal, Zachary L Skidmore, Benjamin J Ainscough, Nathan D Dees, William S Schierding, Cyriac Kandoth, Kyung H Kim, Charles Lu, Christopher C Harris, Nicole Maher, Christopher A Maher, Vincent J Magrini, Benjamin S Abbott, Ken Chen, Eric Clark, Indraniel Das, Xian Fan, Amy E Hawkins, Todd G Hepler, Todd N Wylie, Shawn M Leonard, William E Schroeder, Xiaoqi Shi, Lynn K Carmichael, Matthew R Weil, Richard W Wohlstadter, Gary Stiehr, Michael D McLellan, Craig S Pohl, Christopher A Miller, Daniel C Koboldt, Jason R Walker, James M Eldred, David E Larson, David J Dooling, Li Ding, Elaine R Mardis, Richard K Wilson

المصدر: PLoS Computational Biology, Vol 11, Iss 7, p e1004274 (2015)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-734X; https://doaj.org/toc/1553-7358

URL الوصول: https://doaj.org/article/8bd43ecac4d44f7cbb8d1a284c28cdab

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A draft human pangenome reference

المؤلفون: Wen-Wei Liao, Mobin Asri, Jana Ebler, Daniel Doerr, Marina Haukness, Glenn Hickey, Shuangjia Lu, Julian K. Lucas, Jean Monlong, Haley J. Abel, Silvia Buonaiuto, Xian H. Chang, Haoyu Cheng, Justin Chu, Vincenza Colonna, Jordan M. Eizenga, Xiaowen Feng, Christian Fischer, Robert S. Fulton, Shilpa Garg, Cristian Groza, Andrea Guarracino, William T. Harvey, Simon Heumos, Kerstin Howe, Miten Jain, Tsung-Yu Lu, Charles Markello, Fergal J. Martin, Matthew W. Mitchell, Katherine M. Munson, Moses Njagi Mwaniki, Adam M. Novak, Hugh E. Olsen, Trevor Pesout, David Porubsky, Pjotr Prins, Jonas A. Sibbesen, Jouni Sirén, Chad Tomlinson, Flavia Villani, Mitchell R. Vollger, Lucinda L. Antonacci-Fulton, Gunjan Baid, Carl A. Baker, Anastasiya Belyaeva, Konstantinos Billis, Andrew Carroll, Pi-Chuan Chang, Sarah Cody, Daniel E. Cook, Robert M. Cook-Deegan, Omar E. Cornejo, Mark Diekhans, Peter Ebert, Susan Fairley, Olivier Fedrigo, Adam L. Felsenfeld, Giulio Formenti, Adam Frankish, Yan Gao, Nanibaa’ A. Garrison, Carlos Garcia Giron, Richard E. Green, Leanne Haggerty, Kendra Hoekzema, Thibaut Hourlier, Hanlee P. Ji, Eimear E. Kenny, Barbara A. Koenig, Alexey Kolesnikov, Jan O. Korbel, Jennifer Kordosky, Sergey Koren, HoJoon Lee, Alexandra P. Lewis, Hugo Magalhães, Santiago Marco-Sola, Pierre Marijon, Ann McCartney, Jennifer McDaniel, Jacquelyn Mountcastle, Maria Nattestad, Sergey Nurk, Nathan D. Olson, Alice B. Popejoy, Daniela Puiu, Mikko Rautiainen, Allison A. Regier, Arang Rhie, Samuel Sacco, Ashley D. Sanders, Valerie A. Schneider, Baergen I. Schultz, Kishwar Shafin, Michael W. Smith, Heidi J. Sofia, Ahmad N. Abou Tayoun, Françoise Thibaud-Nissen, Francesca Floriana Tricomi, Justin Wagner, Brian Walenz, Jonathan M. D. Wood, Aleksey V. Zimin, Guillaume Bourque, Mark J. P. Chaisson, Paul Flicek, Adam M. Phillippy, Justin M. Zook, Evan E. Eichler, David Haussler, Ting Wang, Erich D. Jarvis, Karen H. Miga, Erik Garrison, Tobias Marschall, Ira M. Hall, Heng Li, Benedict Paten

المصدر: Nature. 617:312-324

مصطلحات موضوعية: Cancer Research, Multidisciplinary

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce56c54eebc15371aabecb5595f996d0
https://doi.org/10.1038/s41586-023-05896-x

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Mapping and characterization of structural variation in 17,795 human genomes

المؤلفون: Ryan M. Layer, Susan K. Dutcher, Donna M. Muzny, Krishna L. Kanchi, Eric S. Lander, David E. Larson, Colby Chiang, Nathan O. Stitziel, Michael C. Zody, Tara C. Matise, Ira M. Hall, Allison A. Regier, Catherine Reeves, Haley J. Abel, William J Salerno, Nhgri Centers for Common Disease Genomics, Steven Buyske, Indraniel Das, Benjamin M. Neale

المساهمون: Institute for Molecular Medicine Finland, Centre of Excellence in Complex Disease Genetics, Research Programs Unit, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Doctoral Programme in Social Sciences, Department of Public Health, Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, University Management, Biostatistics Helsinki, HUS Heart and Lung Center, CAMM - Research Program for Clinical and Molecular Metabolism, Helsinki University Hospital Area

المصدر: Nature

مصطلحات موضوعية: Male, IMPACT, DATABASE, PREDICTION, NUCLEOTIDE, Quantitative Trait Loci, Population, Gene Dosage, Computational biology, VARIANTS, Biology, Genome, Article, Epigenesis, Genetic, Structural variation, 03 medical and health sciences, 0302 clinical medicine, ELEMENTS, WIDE ASSOCIATION, Humans, Copy-number variation, COMMUNITY-DRIVEN RESOURCE, Indel, education, Alleles, COPY NUMBER VARIATION, 030304 developmental biology, Whole genome sequencing, 0303 health sciences, education.field_of_study, Multidisciplinary, Whole Genome Sequencing, Genome, Human, Racial Groups, Genetic Variation, High-Throughput Nucleotide Sequencing, Molecular Sequence Annotation, FRAMEWORK, Human genetics, Genetics, Population, Case-Control Studies, Female, Human genome, 3111 Biomedicine, Software, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b8d328d68dc05cae904578ada3a230f
https://doi.org/10.1038/s41586-020-2371-0

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دورية أكاديمية

Mapping and characterization of structural variation in 17,795 human genomes

المؤلفون: Haley J. Abel, David E. Larson, Allison A. Regier, Colby Chiang, Indraniel Das, Krishna L. Kanchi, Ryan M. Layer, Benjamin M. Neale, William J. Salerno, Catherine Reeves, Steven Buyske, Tar

المصدر: Nature, Nature. 583(7814):83-89

الإتاحة: https://ideas.repec.org/a/nat/nature/v583y2020i7814d10.1038_s41586-020-2371-0.html

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High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

المصدر: Cell. 185(18)

مصطلحات موضوعية: Male, INDEL Mutation, Whole Genome Sequencing, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Female, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::203e1fedd3913a2e0a4a55d902827ed0
https://pubmed.ncbi.nlm.nih.gov/36055197

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Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences

المساهمون: Medicum, Institute for Molecular Medicine Finland, Complex Disease Genetics, Helsinki Institute of Life Science HiLIFE, University of Helsinki, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Department of Public Health, Samuli Olli Ripatti / Principal Investigator, Biostatistics Helsinki, Department of Biochemistry and Developmental Biology

المصدر: Human Genomics
Human Genomics, Vol 15, Iss 1, Pp 1-17 (2021)
Human genomics, vol 15, iss 1

مصطلحات موضوعية: Male, Genome-wide association study, QH426-470, Genome, Genome-wide association studies, 0302 clinical medicine, Human genetics, GENETIC-VARIANTS, Drug Discovery, Genotype, 2.1 Biological and endogenous factors, Aetiology, Exome sequencing, Genetics & Heredity, Genetics, 0303 health sciences, INSULIN SENSITIVITY, HERITABILITY, FETAL-HEMOGLOBIN, 1184 Genetics, developmental biology, physiology, Single Nucleotide, Middle Aged, Metabolic syndrome, INTERGENIC VARIANTS, Mitochondrial, Phenotype, HBS1L-MYB, OBESITY, Medicine, Molecular Medicine, Female, Primary Research, Sequence Analysis, Adult, Mitochondrial DNA, DNA Copy Number Variations, Locus (genetics), PHENOTYPES, Biology, DNA, Mitochondrial, Polymorphism, Single Nucleotide, DNA sequencing, 03 medical and health sciences, Proto-Oncogene Proteins c-myb, Human genome sequencing, GTP-Binding Proteins, Exome Sequencing, Mendelian randomization, Humans, Cell Lineage, Genetic Predisposition to Disease, Polymorphism, Mitochondrial content, Molecular Biology, Gene, Metabolic and endocrine, 030304 developmental biology, Aged, FATTY LIVER-DISEASE, Human Genome, Membrane Proteins, DNA, Sequence Analysis, DNA, Mendelian Randomization Analysis, FINNISH FAMILIES, Genome, Mitochondrial, 3111 Biomedicine, Apoptosis Regulatory Proteins, 030217 neurology & neurosurgery, Genome-Wide Association Study