Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Jonathan R Belyeu"'
Autor:
Jordan A Berg, Jonathan R Belyeu, Jeffrey T Morgan, Yeyun Ouyang, Alex J Bott, Aaron R Quinlan, Jason Gertz, Jared Rutter
Publikováno v:
PLoS Computational Biology, Vol 16, Iss 1, p e1007625 (2020)
Ribosome profiling, an application of nucleic acid sequencing for monitoring ribosome activity, has revolutionized our understanding of protein translation dynamics. This technique has been available for a decade, yet the current state and standardiz
Externí odkaz:
https://doaj.org/article/c320610a0ea949369e326b30082f3577
Autor:
Sairam Behera, Jonathan R. Belyeu, Xiao Chen, Luis F. Paulin, Ngoc Quynh H. Nguyen, Emma Newman, Medhat Mahmoud, Vipin K. Menon, Qibin Qi, Parag Joshi, Santica Marcovina, Massimiliano Rossi, Eric Roller, James Han, Vitor Onuchic, Christy L. Avery, Christie M. Ballantyne, Carlos J. Rodriguez, Robert C. Kaplan, Donna M. Muzny, Ginger A. Metcalf, Richard A. Gibbs, Bing Yu, Eric Boerwinkle, Michael A. Eberle, Fritz J. Sedlazeck
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-15 (2024)
Abstract The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN) of KIV-2, a 5.5 kbp sub-region. KIV-2 is highly polymorphic in the population and
Externí odkaz:
https://doaj.org/article/b08e11c0c6a64b4e840870232441e2bd
Autor:
Jonathan R. Belyeu, Murad Chowdhury, Joseph Brown, Brent S. Pedersen, Michael J. Cormier, Aaron R. Quinlan, Ryan M. Layer
Publikováno v:
Genome Biology, Vol 22, Iss 1, Pp 1-13 (2021)
Abstract Visual validation is an important step to minimize false-positive predictions from structural variant (SV) detection. We present Samplot, a tool for creating images that display the read depth and sequence alignments necessary to adjudicate
Externí odkaz:
https://doaj.org/article/3469a82678f7486a86d417d184bb1a2f
Autor:
Michael J. Cormier, Jonathan R. Belyeu, Brent S. Pedersen, Joseph Brown, Johannes Köster, Aaron R. Quinlan
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-6 (2021)
Modern biological research is complicated by the difficulty of collecting, transforming, annotating, and integrating datasets. Here, the authors present Go Get Data, a fast, reproducible approach to installing standardized data recipes, with an appli
Externí odkaz:
https://doaj.org/article/229a1630d4cf43f5bf84c23578b10f64
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
Publikováno v:
Bioinformatics
Summary Unfazed is a command-line tool to determine the parental gamete of origin for de novo mutations from paired-end Illumina DNA sequencing reads. Unfazed uses variant information for a sequenced trio to identify the parental gamete of origin by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f83f1118f177181906bca7f17c52a72
https://pubmed.ncbi.nlm.nih.gov/34146087
https://pubmed.ncbi.nlm.nih.gov/34146087
SummaryUnfazedis a command-line tool to determine the parental gamete of origin forde novomutations from paired-end Illumina DNA sequencing reads.Unfazeduses variant information for a sequenced trio to identify the parental gamete of origin by linkin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5193c3484bbb19c717515bcdcab534dc
https://doi.org/10.1101/2021.02.03.429658
https://doi.org/10.1101/2021.02.03.429658
Autor:
Jonathan R Belyeu, Aaron R. Quinlan, Michael J. Cormier, Johannes Köster, Joseph Brown, Brent S. Pedersen
Publikováno v:
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-6 (2021)
Nature Communications, Vol 12, Iss 1, Pp 1-6 (2021)
The rapid increase in the amount of genomic data provides researchers with an opportunity to integrate diverse datasets and annotations when addressing a wide range of biological questions. However, genomic datasets are deposited on different platfor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d5ae1b6a626140861c4113f369f5814
https://pubmed.ncbi.nlm.nih.gov/33846313
https://pubmed.ncbi.nlm.nih.gov/33846313
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:
Jonathan R Belyeu, Murad Chowdhury, Brent S. Pedersen, Joseph Brown, Aaron R. Quinlan, Michael J. Cormier, Ryan M. Layer
Publikováno v:
Genome Biology
Genome Biology, Vol 22, Iss 1, Pp 1-13 (2021)
Genome Biology, Vol 22, Iss 1, Pp 1-13 (2021)
Visual validation is an essential step to minimize false positive predictions resulting from structural variant (SV) detection. We present Samplot, a tool for quickly creating images that display the read depth and sequence alignments necessary to ad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a34760597c567c9c0892f7edcea2bb57
https://doi.org/10.1101/2020.09.23.310110
https://doi.org/10.1101/2020.09.23.310110