Nature Communications (Sep 2020)
A diploid assembly-based benchmark for variants in the major histocompatibility complex
- 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
Affiliations
- Chen-Shan Chin
- DNAnexus, Inc, 1975 W El Camino Real
- Justin Wagner
- Material Measurement Laboratory, National Institute of Standards and Technology
- Qiandong Zeng
- Laboratory Corporation of America Holdings
- Erik Garrison
- University of California, Santa Cruz
- Shilpa Garg
- Department of Genetics, Harvard Medical School
- Arkarachai Fungtammasan
- DNAnexus, Inc, 1975 W El Camino Real
- Mikko Rautiainen
- Center for Bioinformatics, Saarland University, Saarland Informatics Campus E2.1
- Sergey Aganezov
- Department of Computer Science, Johns Hopkins University
- Melanie Kirsche
- Department of Computer Science, Johns Hopkins University
- Samantha Zarate
- Department of Computer Science, Johns Hopkins University
- Michael C. Schatz
- Department of Computer Science, Johns Hopkins University
- Chunlin Xiao
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health
- William J. Rowell
- Pacific Biosciences
- Charles Markello
- University of California, Santa Cruz
- Jesse Farek
- Human Genome Sequencing Center, Baylor College of Medicine
- Fritz J. Sedlazeck
- Human Genome Sequencing Center, Baylor College of Medicine
- Vikas Bansal
- Department of Pediatrics, University of California San Diego
- Byunggil Yoo
- Genomic Medicine Center, Children’s Mercy Kansas City
- Neil Miller
- Genomic Medicine Center, Children’s Mercy Kansas City
- Xin Zhou
- Department of Computer Science, Stanford University
- Andrew Carroll
- Google Inc, 1600 Amphitheatre Pkwy
- Alvaro Martinez Barrio
- 10x Genomics
- Marc Salit
- Joint Initiative for Metrology in Biology
- Tobias Marschall
- Institute of Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University Düsseldorf
- Alexander T. Dilthey
- Institute of Medical Microbiology and Hospital Hygiene, Heinrich Heine University Düsseldorf
- Justin M. Zook
- Material Measurement Laboratory, National Institute of Standards and Technology
- DOI
- https://doi.org/10.1038/s41467-020-18564-9
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 9
Abstract
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.
