Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

Germline mutation rate is a critical parameter in the study of genetics and evolution. Here, Carlson et al. infer fine-scale patterns of human mutation rate heterogeneity by analyzing ~36 million singleton variants from 3560 whole-genome sequences.

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Autores principales:	Jedidiah Carlson, Adam E. Locke, Matthew Flickinger, Matthew Zawistowski, Shawn Levy, Richard M. Myers, Michael Boehnke, Hyun Min Kang, Laura J. Scott, Jun Z. Li, Sebastian Zöllner, The BRIDGES Consortium
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/d2ba08b952ae44199ac8bdb9d8b02773
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spelling	oai:doaj.org-article:d2ba08b952ae44199ac8bdb9d8b027732021-12-02T15:33:39ZExtremely rare variants reveal patterns of germline mutation rate heterogeneity in humans10.1038/s41467-018-05936-52041-1723https://doaj.org/article/d2ba08b952ae44199ac8bdb9d8b027732018-09-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-05936-5https://doaj.org/toc/2041-1723Germline mutation rate is a critical parameter in the study of genetics and evolution. Here, Carlson et al. infer fine-scale patterns of human mutation rate heterogeneity by analyzing ~36 million singleton variants from 3560 whole-genome sequences.Jedidiah CarlsonAdam E. LockeMatthew FlickingerMatthew ZawistowskiShawn LevyRichard M. MyersMichael BoehnkeHyun Min KangLaura J. ScottJun Z. LiSebastian ZöllnerThe BRIDGES ConsortiumNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-13 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Jedidiah Carlson Adam E. Locke Matthew Flickinger Matthew Zawistowski Shawn Levy Richard M. Myers Michael Boehnke Hyun Min Kang Laura J. Scott Jun Z. Li Sebastian Zöllner The BRIDGES Consortium Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
description	Germline mutation rate is a critical parameter in the study of genetics and evolution. Here, Carlson et al. infer fine-scale patterns of human mutation rate heterogeneity by analyzing ~36 million singleton variants from 3560 whole-genome sequences.
format	article
author	Jedidiah Carlson Adam E. Locke Matthew Flickinger Matthew Zawistowski Shawn Levy Richard M. Myers Michael Boehnke Hyun Min Kang Laura J. Scott Jun Z. Li Sebastian Zöllner The BRIDGES Consortium
author_facet	Jedidiah Carlson Adam E. Locke Matthew Flickinger Matthew Zawistowski Shawn Levy Richard M. Myers Michael Boehnke Hyun Min Kang Laura J. Scott Jun Z. Li Sebastian Zöllner The BRIDGES Consortium
author_sort	Jedidiah Carlson
title	Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
title_short	Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
title_full	Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
title_fullStr	Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
title_full_unstemmed	Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
title_sort	extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/d2ba08b952ae44199ac8bdb9d8b02773
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Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

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