Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Mitchell A. Bekritsky"'
Autor:
Peter Krusche, Doruk Beyter, Christopher T. Saunders, Konrad Scheffler, Aaron L. Halpern, Xiaoyu Chen, Morten Källberg, Sangtae Kim, Mitchell A. Bekritsky, Eunho Noh, Yeonbin Kim
Publikováno v:
Nature methods. 15(8)
We describe Strelka2 ( https://github.com/Illumina/strelka ), an open-source small-variant-calling method for research and clinical germline and somatic sequencing applications. Strelka2 introduces a novel mixture-model-based estimation of insertion/
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19967d9ed8d455e2f23b3c783e7c1db3
https://pubmed.ncbi.nlm.nih.gov/30013048
https://pubmed.ncbi.nlm.nih.gov/30013048
Autor:
Eunho Noh, Peter Krusche, Konrad Scheffler, Christopher T. Saunders, Doruk Beyter, Sangtae Kim, Aaron L. Halpern, Morten Källberg, Mitchell A. Bekritsky, Xiaoyu Chen
We describe Strelka2 (https://github.com/Illumina/strelka), an open-source small variant calling method for clinical germline and somatic sequencing applications. Strelka2 introduces a novel mixture-model based estimation of indel error parameters fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efde70b94f990b6e83ebbe2d3a9600ab
Autor:
Benjamin L. Moore, Gil McVean, Elliott H. Margulies, Zamin Iqbal, Epameinondas Fritzilas, Michael A. Eberle, Han-Yu Chuang, Aaron L. Halpern, Sean Humphray, David R. Bentley, Peter Krusche, Morten Källberg, Semyon Kruglyak, Mitchell A. Bekritsky
Improvement of variant calling in next-generation sequence data requires a comprehensive, genome-wide catalogue of high-confidence variants called in a set of genomes for use as a benchmark. We generated deep, whole-genome sequence data of seventeen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cec4fd17cd2d9439ba1f450a59596d6e
https://doi.org/10.1101/055541
https://doi.org/10.1101/055541
Autor:
Anthony Leotta, Steven Marks, Ivan Iossifov, Lucinda Fulton, Kith Pradhan, Peter Andrews, Linda Rodgers, Michael Wigler, Beicong Ma, Richard W. McCombie, Jennifer Troge, Elena Ghiban, Ryan Demeter, Robert S. Fulton, Julie Rosenbaum, Asya Stepansky, Vincent Magrini, Yoon-ha Lee, Kenny Ye, Jennifer Parla, Richard K. Wilson, Robert B. Darnell, Boris Yamrom, Inessa Hakker, Jennifer C. Darnell, Michael Ronemus, Michael C. Schatz, Dan Levy, Elaine R. Mardis, Zihua Wang, Giuseppe Narzisi, Melissa Kramer, Jude Kendall, Mitchell A. Bekritsky, Ewa A. Grabowska
Publikováno v:
Neuron. 74(2):285-299
SummaryExome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveal de novo small indels and point substitutions, which come mostly from the paternal line in an age-dependent manner. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::436dac00dfb388b306cc1884918b76cf