Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Thomas J. Nicholas"'
Publikováno v:
BMC Bioinformatics, Vol 23, Iss 1, Pp 1-17 (2022)
Abstract Background Identification of deleterious genetic variants using DNA sequencing data relies on increasingly detailed filtering strategies to isolate the small subset of variants that are more likely to underlie a disease phenotype. Datasets r
Externí odkaz:
https://doaj.org/article/3c489c445f2642d092d45bb8ad2d7c20
Autor:
Thomas J. Nicholas, Michael J. Cormier, Xiaomeng Huang, Yi Qiao, Gabor T. Marth, Aaron R. Quinlan
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-11 (2021)
Abstract Background DNA sequencing has unveiled extensive tumor heterogeneity in several different cancer types, with many exhibiting diverse subclonal populations. Identifying and tracing mutations throughout the expansion and progression of a tumor
Externí odkaz:
https://doaj.org/article/e1da1938fbef4e359f6fe7d05b573c8c
Autor:
Thomas J. Nicholas, Najla Al‐Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak‐Toydemir, Christine E. Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J. Hernandez, Michael J. Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua L. Bonkowsky, Martin Tristani‐Firouzi, Mark Yandell, Gabor Marth, Aaron R. Quinlan, Luca Brunelli, Reha M. Toydemir, Brian J. Shayota, John C. Carey, Steven E. Boyden, Sabrina Malone Jenkins
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Background Genetic disorders contribute to significant morbidity and mortality in critically ill newborns. Despite advances in genome sequencing technologies, a majority of neonatal cases remain unsolved. Complex structural variants (SVs) of
Externí odkaz:
https://doaj.org/article/1827760dc59544598719c7df6f5aa0f2
Autor:
Hayley M, Reynolds, Ting, Wen, Andrew, Farrell, Rong, Mao, Barry, Moore, Steven E, Boyden, Pinar, Bayrak-Toydemir, Thomas J, Nicholas, Shawn, Rynearson, Carson, Holt, Christine, Miller, Katherine, Noble, Dawn, Bentley, Rachel, Palmquist, Betsy, Ostrander, Stephanie, Manberg, Joshua L, Bonkowsky, Brian J, Shayota, Sabrina Malone, Jenkins
Publikováno v:
Cold Spring Harbor molecular case studies. 8(7)
Congenital myasthenic syndrome (CMS) is a group of 32 disorders involving genetic dysfunction at the neuromuscular junction resulting in skeletal muscle weakness that worsens with physical activity. Precise diagnosis and molecular subtype identificat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b121e8945c983c80ed67587e4307c717
https://pubmed.ncbi.nlm.nih.gov/36379720
https://pubmed.ncbi.nlm.nih.gov/36379720
Autor:
Stephen Sanders, Xuefang Zhao, Aaron R. Quinlan, Joseph Brown, Jonathan R Belyeu, Bernie Devlin, Thomas J. Nicholas, Harrison Brand, Julie Feusier, Lynn B. Jorde, Lisa Baird, Brent S. Pedersen, Harold Z. Wang, Michael E. Talkowski, Meenal Gupta
Publikováno v:
American Journal of Human Genetics
Summary Each human genome includes de novo mutations that arose during gametogenesis. While these germline mutations represent a fundamental source of new genetic diversity, they can also create deleterious alleles that impact fitness. Whereas the ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dca2104bde4cf3777adbfe09d9087b1c
https://doi.org/10.1016/j.ajhg.2021.02.012
https://doi.org/10.1016/j.ajhg.2021.02.012
Autor:
Stephen Sanders, Xuefang Zhao, Jonathan R Belyeu, Harrison Brand, Bernie Devlin, Brent S. Pedersen, Lisa Baird, Thomas J. Nicholas, Harold Z. Wang, Meenal Gupta, Michael E. Talkowski, Julie Feusier, Lynn B. Jorde, Aaron R. Quinlan
Each human genome includes de novo mutations that arose during gametogenesis. While these germline mutations represent a fundamental source of new genetic diversity, they can also create deleterious alleles that impact fitness. The germline mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::16604f6e7a97136b972917d42523a908
https://doi.org/10.1101/2020.10.06.329011
https://doi.org/10.1101/2020.10.06.329011
Autor:
Brent S. Pedersen, Thomas A Sasani, Aaron R. Quinlan, Brian K. Lohman, Megan E Conway, Thomas J. Nicholas, Stephanie N Kravitz, Jonathan R Belyeu, James M Havrilla, Ryan M. Layer
Publikováno v:
GigaScience
SV-plaudit is a framework for rapidly curating structural variant (SVs) predictions. For each SV, we generate an image that visualizes the coverage and alignment signals from a set of samples. Images are uploaded to our cloud framework where users as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747df26905441375e2720b5889f956d5
Autor:
Thomas J. Nicholas, Yi Qiao, Andrew Farrell, Brent Pederson, Gabor T. Marth, Aaron R. Quinlan, Xiaomeng Huang, Dillon Lee
Publikováno v:
Cancer Research. 78:3280-3280
Current tumor variant detection software tools are focused on the identification of somatic mutations in a single tumor sample (e.g. the primary tumor) compared to normal control tissue, and are not adequate for studies where multiple samples from th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d70a72424f12b0400ebb462020514a36
https://doi.org/10.1158/1538-7445.am2018-3280
https://doi.org/10.1158/1538-7445.am2018-3280
Autor:
Joshua M. Akey, Thomas J. Nicholas, Evan E. Eichler, Mario Ventura, Ze Cheng, Katrina L. Mealey
Publikováno v:
Genome Research. 19:491-499
Structural variation is an important and abundant source of genetic and phenotypic variation. Here we describe the first systematic and genome-wide analysis of segmental duplications and associated copy number variants (CNVs) in the modern domesticat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b83cf9e206cbddb2e61dfb6a161dbddf
https://doi.org/10.1101/gr.084715.108
https://doi.org/10.1101/gr.084715.108
Autor:
Zhirong Bao, Zhongying Zhao, Thomas J. Boyle, Barbara Mericle, Thomas J. Nicholas, Matthew J. Sandel, John I. Murray, Max E. Boeck, Robert H. Waterston
Publikováno v:
Nature Methods. 5:703-709
Automated imaging of the Caenorhabditis elegans embryo now allows monitoring of the timing and relative expression of individual reporter genes at single-cell resolution over almost all of embryonic development. Future systematic analysis could be us
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1bdf688cfdab82cbf0cbf94ba7655f2
https://doi.org/10.1038/nmeth.1228
https://doi.org/10.1038/nmeth.1228