Zobrazeno 1 - 10
of 147
pro vyhledávání: '"W Scott Watkins"'
Publikováno v:
Genome Biology, Vol 23, Iss 1, Pp 1-19 (2022)
Abstract Background Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile
Externí odkaz:
https://doaj.org/article/34c99587bc204b03be3d81040f9fb3c0
Autor:
Shannon Hateley, Angelica Lopez-Izquierdo, Chuanchau J. Jou, Scott Cho, Joshua G. Schraiber, Shiya Song, Colin T. Maguire, Natalia Torres, Michael Riedel, Neil E. Bowles, Cammon B. Arrington, Brett J. Kennedy, Susan P. Etheridge, Shuping Lai, Chase Pribble, Lindsay Meyers, Derek Lundahl, Jake Byrnes, Julie M. Granka, Christopher A. Kauffman, Gordon Lemmon, Steven Boyden, W. Scott Watkins, Mary Anne Karren, Stacey Knight, J. Brent Muhlestein, John F. Carlquist, Jeffrey L. Anderson, Kenneth G. Chahine, Khushi U. Shah, Catherine A. Ball, Ivor J. Benjamin, Mark Yandell, Martin Tristani-Firouzi
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-10 (2021)
Many rare high-impact variants have been associated with disease, but the origins and functional impact are not always explored. Here, the authors trace the ancestry of a rare high impact atrial fibrillation allele in KCNQ1, and use iPSC-derived card
Externí odkaz:
https://doaj.org/article/fc7dba9c47974f5aa229e04e2b3a9d14
Autor:
W. Scott Watkins, E. Javier Hernandez, Sergiusz Wesolowski, Brent W. Bisgrove, Ryan T. Sunderland, Edwin Lin, Gordon Lemmon, Bradley L. Demarest, Thomas A. Miller, Daniel Bernstein, Martina Brueckner, Wendy K. Chung, Bruce D. Gelb, Elizabeth Goldmuntz, Jane W. Newburger, Christine E. Seidman, Yufeng Shen, H. Joseph Yost, Mark Yandell, Martin Tristani-Firouzi
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
Large whole-exome sequencing studies have suggested that the genetic architecture of syndromic congenital heart disease (CHD) is different from sporadic forms. Here, Watkins et al. estimate the relative contribution of damaging recessive and de novo
Externí odkaz:
https://doaj.org/article/8135b5f4cd6b48d3b81b0a72c696e63e
Autor:
Jiun-Sheng Chen, Fulan Hu, Subra Kugathasan, Lynn B. Jorde, David Nix, Ann Rutherford, Lee Denson, W. Scott Watkins, Sampath Prahalad, Chad Huff, Stephen L. Guthery
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 8, Iss 9, Pp 2881-2888 (2018)
Crohn’s disease is a complex genetic trait characterized by chronic relapsing intestinal inflammation. Genome wide association studies (GWAS) have identified more than 170 loci associated with the disease, accounting for ∼14% of the disease varia
Externí odkaz:
https://doaj.org/article/48f2ca51b33446928db7002199a09f51
Autor:
Julie Feusier, David J. Witherspoon, W. Scott Watkins, Clément Goubert, Thomas A. Sasani, Lynn B. Jorde
Publikováno v:
Mobile DNA, Vol 8, Iss 1, Pp 1-10 (2017)
Abstract Background Polymorphic human Alu elements are excellent tools for assessing population structure, and new retrotransposition events can contribute to disease. Next-generation sequencing has greatly increased the potential to discover Alu ele
Externí odkaz:
https://doaj.org/article/046ccbb1e3264f1ba464b90929820dbd
Autor:
Navin Rustagi, Anbo Zhou, W. Scott Watkins, Erika Gedvilaite, Shuoguo Wang, Naveen Ramesh, Donna Muzny, Richard A. Gibbs, Lynn B. Jorde, Fuli Yu, Jinchuan Xing
Publikováno v:
BMC Genomics, Vol 18, Iss 1, Pp 1-12 (2017)
Abstract Background The cost of Whole Genome Sequencing (WGS) has decreased tremendously in recent years due to advances in next-generation sequencing technologies. Nevertheless, the cost of carrying out large-scale cohort studies using WGS is still
Externí odkaz:
https://doaj.org/article/082816d78c974cf38b2f17d92c98c203
Autor:
Raquel M. Zimmerman, Edgar J. Hernandez, W. Scott Watkins, Nathan Blue, Martin Tristani-Firouzi, Mark Yandell, Benjamin A. Steinberg
Atrial fibrillation (AF) leads to significant morbidity and mortality, which is primarily related to stroke despite effective stroke prevention therapies. There remains a critical need for personalized, socially aware, equitable stroke risk predictio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da9906a5fa67ba36fa2eb8c8a3f1b8b9
https://doi.org/10.1101/2023.02.27.23286470
https://doi.org/10.1101/2023.02.27.23286470
Autor:
W. Scott Watkins, Derek Lundahl, Steven E. Boyden, Shiya Song, Mary Anne Karren, J. Brent Muhlestein, Shannon Hateley, Chuanchau J. Jou, Colin T. Maguire, Jeffrey L. Anderson, Khushi U Shah, Susan P. Etheridge, Kenneth G. Chahine, Brett Kennedy, Martin Tristani-Firouzi, Gordon Lemmon, Lindsay Meyers, Ivor J. Benjamin, Stacey Knight, Chase Pribble, Catherine A. Ball, Shuping Lai, Christopher A. Kauffman, Scott Cho, Cammon B. Arrington, Natalia S. Torres, Michael Riedel, Joshua G. Schraiber, John F. Carlquist, Jake K. Byrnes, Julie M. Granka, Neil E. Bowles, Mark Yandell, Angelica Lopez-Izquierdo
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-10 (2021)
Nature Communications
Nature Communications
The genetic architecture of atrial fibrillation (AF) encompasses low impact, common genetic variants and high impact, rare variants. Here, we characterize a high impact AF-susceptibility allele, KCNQ1 R231H, and describe its transcontinental geograph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::337f8a6f32b99a4e0658f6fc97ff031f
https://doaj.org/article/fc7dba9c47974f5aa229e04e2b3a9d14
https://doaj.org/article/fc7dba9c47974f5aa229e04e2b3a9d14
Autor:
Hong-Seok Ha, Lisa Baird, Julie Feusier, Andrew Farrell, Jinchuan Xing, Jainy Thomas, Lynn B. Jorde, W. Scott Watkins, David J. Witherspoon
Publikováno v:
Genome Research. 29:1567-1577
Germline mutation rates in humans have been estimated for a variety of mutation types, including single-nucleotide and large structural variants. Here, we directly measure the germline retrotransposition rate for the three active retrotransposon elem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5cd0af6c52c59fa07bb34afe74acd18
https://doi.org/10.1101/gr.247965.118
https://doi.org/10.1101/gr.247965.118
Autor:
Michael J Monument, Kirsten M Johnson, Elizabeth McIlvaine, Lisa Abegglen, W Scott Watkins, Lynn B Jorde, Richard B Womer, Natalie Beeler, Laura Monovich, Elizabeth R Lawlor, Julia A Bridge, Joshua D Schiffman, Mark D Krailo, R Lor Randall, Stephen L Lessnick
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e104378 (2014)
The genetics involved in Ewing sarcoma susceptibility and prognosis are poorly understood. EWS/FLI and related EWS/ETS chimeras upregulate numerous gene targets via promoter-based GGAA-microsatellite response elements. These microsatellites are highl
Externí odkaz:
https://doaj.org/article/4751ee6c02754a9b8aa6e02b50c6dade