Detecting sample swaps in diverse NGS data types using linkage disequilibrium

Parallelized analysis in clinical genomics can lead to sample or data mislabelling, and could have serious downstream consequences. Here the authors present a tool to quantify sample genetic relatedness and detect such mistakes, and apply it to thousands of datasets from the ENCODE consortium.

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Autores principales:	Nauman Javed, Yossi Farjoun, Tim J. Fennell, Charles B. Epstein, Bradley E. Bernstein, Noam Shoresh
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/3aac3ad4af5c44bbbcff502de0819ea0
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spelling	oai:doaj.org-article:3aac3ad4af5c44bbbcff502de0819ea02021-12-02T16:24:54ZDetecting sample swaps in diverse NGS data types using linkage disequilibrium10.1038/s41467-020-17453-52041-1723https://doaj.org/article/3aac3ad4af5c44bbbcff502de0819ea02020-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-17453-5https://doaj.org/toc/2041-1723Parallelized analysis in clinical genomics can lead to sample or data mislabelling, and could have serious downstream consequences. Here the authors present a tool to quantify sample genetic relatedness and detect such mistakes, and apply it to thousands of datasets from the ENCODE consortium.Nauman JavedYossi FarjounTim J. FennellCharles B. EpsteinBradley E. BernsteinNoam ShoreshNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-8 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Nauman Javed Yossi Farjoun Tim J. Fennell Charles B. Epstein Bradley E. Bernstein Noam Shoresh Detecting sample swaps in diverse NGS data types using linkage disequilibrium
description	Parallelized analysis in clinical genomics can lead to sample or data mislabelling, and could have serious downstream consequences. Here the authors present a tool to quantify sample genetic relatedness and detect such mistakes, and apply it to thousands of datasets from the ENCODE consortium.
format	article
author	Nauman Javed Yossi Farjoun Tim J. Fennell Charles B. Epstein Bradley E. Bernstein Noam Shoresh
author_facet	Nauman Javed Yossi Farjoun Tim J. Fennell Charles B. Epstein Bradley E. Bernstein Noam Shoresh
author_sort	Nauman Javed
title	Detecting sample swaps in diverse NGS data types using linkage disequilibrium
title_short	Detecting sample swaps in diverse NGS data types using linkage disequilibrium
title_full	Detecting sample swaps in diverse NGS data types using linkage disequilibrium
title_fullStr	Detecting sample swaps in diverse NGS data types using linkage disequilibrium
title_full_unstemmed	Detecting sample swaps in diverse NGS data types using linkage disequilibrium
title_sort	detecting sample swaps in diverse ngs data types using linkage disequilibrium
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/3aac3ad4af5c44bbbcff502de0819ea0
work_keys_str_mv	AT naumanjaved detectingsampleswapsindiversengsdatatypesusinglinkagedisequilibrium AT yossifarjoun detectingsampleswapsindiversengsdatatypesusinglinkagedisequilibrium AT timjfennell detectingsampleswapsindiversengsdatatypesusinglinkagedisequilibrium AT charlesbepstein detectingsampleswapsindiversengsdatatypesusinglinkagedisequilibrium AT bradleyebernstein detectingsampleswapsindiversengsdatatypesusinglinkagedisequilibrium AT noamshoresh detectingsampleswapsindiversengsdatatypesusinglinkagedisequilibrium
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Detecting sample swaps in diverse NGS data types using linkage disequilibrium

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