A diploid assembly-based benchmark for variants in the major histocompatibility complex

Accurate, phased assemblies are a key tool in understanding the human genome, particularly in highly polymorphic regions like the medically important MHC. Here the authors provide an assembly-based benchmark for this difficult-to-characterize region.

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Autores principales: Chen-Shan Chin, Justin Wagner, Qiandong Zeng, Erik Garrison, Shilpa Garg, Arkarachai Fungtammasan, Mikko Rautiainen, Sergey Aganezov, Melanie Kirsche, Samantha Zarate, Michael C. Schatz, Chunlin Xiao, William J. Rowell, Charles Markello, Jesse Farek, Fritz J. Sedlazeck, Vikas Bansal, Byunggil Yoo, Neil Miller, Xin Zhou, Andrew Carroll, Alvaro Martinez Barrio, Marc Salit, Tobias Marschall, Alexander T. Dilthey, Justin M. Zook
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Lenguaje:EN
Publicado: Nature Portfolio 2020
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Acceso en línea:https://doaj.org/article/5e9e6d5734354b4a86ef752be8c0d26e
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spelling oai:doaj.org-article:5e9e6d5734354b4a86ef752be8c0d26e2021-12-02T17:26:56ZA diploid assembly-based benchmark for variants in the major histocompatibility complex10.1038/s41467-020-18564-92041-1723https://doaj.org/article/5e9e6d5734354b4a86ef752be8c0d26e2020-09-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-18564-9https://doaj.org/toc/2041-1723Accurate, phased assemblies are a key tool in understanding the human genome, particularly in highly polymorphic regions like the medically important MHC. Here the authors provide an assembly-based benchmark for this difficult-to-characterize region.Chen-Shan ChinJustin WagnerQiandong ZengErik GarrisonShilpa GargArkarachai FungtammasanMikko RautiainenSergey AganezovMelanie KirscheSamantha ZarateMichael C. SchatzChunlin XiaoWilliam J. RowellCharles MarkelloJesse FarekFritz J. SedlazeckVikas BansalByunggil YooNeil MillerXin ZhouAndrew CarrollAlvaro Martinez BarrioMarc SalitTobias MarschallAlexander T. DiltheyJustin M. ZookNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-9 (2020)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Chen-Shan Chin
Justin Wagner
Qiandong Zeng
Erik Garrison
Shilpa Garg
Arkarachai Fungtammasan
Mikko Rautiainen
Sergey Aganezov
Melanie Kirsche
Samantha Zarate
Michael C. Schatz
Chunlin Xiao
William J. Rowell
Charles Markello
Jesse Farek
Fritz J. Sedlazeck
Vikas Bansal
Byunggil Yoo
Neil Miller
Xin Zhou
Andrew Carroll
Alvaro Martinez Barrio
Marc Salit
Tobias Marschall
Alexander T. Dilthey
Justin M. Zook
A diploid assembly-based benchmark for variants in the major histocompatibility complex
description Accurate, phased assemblies are a key tool in understanding the human genome, particularly in highly polymorphic regions like the medically important MHC. Here the authors provide an assembly-based benchmark for this difficult-to-characterize region.
format article
author Chen-Shan Chin
Justin Wagner
Qiandong Zeng
Erik Garrison
Shilpa Garg
Arkarachai Fungtammasan
Mikko Rautiainen
Sergey Aganezov
Melanie Kirsche
Samantha Zarate
Michael C. Schatz
Chunlin Xiao
William J. Rowell
Charles Markello
Jesse Farek
Fritz J. Sedlazeck
Vikas Bansal
Byunggil Yoo
Neil Miller
Xin Zhou
Andrew Carroll
Alvaro Martinez Barrio
Marc Salit
Tobias Marschall
Alexander T. Dilthey
Justin M. Zook
author_facet Chen-Shan Chin
Justin Wagner
Qiandong Zeng
Erik Garrison
Shilpa Garg
Arkarachai Fungtammasan
Mikko Rautiainen
Sergey Aganezov
Melanie Kirsche
Samantha Zarate
Michael C. Schatz
Chunlin Xiao
William J. Rowell
Charles Markello
Jesse Farek
Fritz J. Sedlazeck
Vikas Bansal
Byunggil Yoo
Neil Miller
Xin Zhou
Andrew Carroll
Alvaro Martinez Barrio
Marc Salit
Tobias Marschall
Alexander T. Dilthey
Justin M. Zook
author_sort Chen-Shan Chin
title A diploid assembly-based benchmark for variants in the major histocompatibility complex
title_short A diploid assembly-based benchmark for variants in the major histocompatibility complex
title_full A diploid assembly-based benchmark for variants in the major histocompatibility complex
title_fullStr A diploid assembly-based benchmark for variants in the major histocompatibility complex
title_full_unstemmed A diploid assembly-based benchmark for variants in the major histocompatibility complex
title_sort diploid assembly-based benchmark for variants in the major histocompatibility complex
publisher Nature Portfolio
publishDate 2020
url https://doaj.org/article/5e9e6d5734354b4a86ef752be8c0d26e
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