Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

Ian M. Campbell , Tomasz Gambin , Shalini N. Jhangiani , Megan L. Grove , Narayanan Veeraraghavan , Donna M. Muzny , Chad Shaw , Richard A. Gibbs , Eric Boerwinkle , Fuli Yu , Megan L. Grove

Abstract

As the amount of human genomic sequence available from personal genomes and exomes has increased, so too has the observation of genomic positions having two or more alternative alleles, so-called multiallelic sites. For portions of the haploid genome that are present in more than one copy, including segmental duplications, variation at such multisite variant positions becomes even more complex. Despite the frequency of multiallelic variants, a number of commonly used resources and tools in genomic research and diagnostics do not support these multiallelic variants all together or require special modifications. Here, we explore the frequency of multiallelic sites in large samples with whole exome sequencing and discuss potential outcomes of failing to account for multiple variant alleles. We also briefly discuss some commonly utilized resources that fully support multiallelic sites.
Author Ian M. Campbell - Department of Molecular and Human Genetics (DMHG) [Baylor College of Medicine (BCM)]
Ian M. Campbell,,
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, Tomasz Gambin II - [Department of Molecular and Human Genetics (DMHG) [Baylor College of Medicine (BCM)]]
Tomasz Gambin,,
- The Institute of Computer Science
- Department of Molecular and Human Genetics
, Shalini N. Jhangiani - Human Genome Sequencing Center [Baylor College of Medicine (BCM)]
Shalini N. Jhangiani,,
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, Megan L. Grove - [School of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas]
Megan L. Grove,,
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- School of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas
, Narayanan Veeraraghavan - Human Genome Sequencing Center [Baylor College of Medicine (BCM)]
Narayanan Veeraraghavan,,
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, Donna M. Muzny - Human Genome Sequencing Center [Baylor College of Medicine (BCM)]
Donna M. Muzny,,
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, Chad Shaw - Department of Molecular and Human Genetics (DMHG) [Baylor College of Medicine (BCM)]
Chad Shaw,,
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, Richard A. Gibbs - Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas
Richard A. Gibbs ,,
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, Eric Boerwinkle - Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, Human Genetics Center and Institute of Molecular Medicine, University of Texas-Houston Health Science Center, Houston, Texas
Eric Boerwinkle,,
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, Fuli Yu - Department of Molecular and Human Genetics (DMHG) [Baylor College of Medicine (BCM)]
Fuli Yu,,
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et al.`
Journal seriesHuman Mutation, ISSN 1059-7794
Issue year2016
Vol37
No3
Pages231-234
Publication size in sheets0.5
DOIDOI:10.1002/humu.22944
URL http://onlinelibrary.wiley.com/doi/10.1002/humu.22944/abstract;jsessionid=922E00CB4BD669BAD2DA9A43FA633C5B.f02t03
Languageen angielski
Score (nominal)40
ScoreMinisterial score = 40.0, 27-03-2017, ArticleFromJournal
Ministerial score (2013-2016) = 40.0, 27-03-2017, ArticleFromJournal
Publication indicators WoS Impact Factor: 2016 = 4.601 (2) - 2016=4.809 (5)
Citation count*3 (2018-06-20)
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* presented citation count is obtained through Internet information analysis and it is close to the number calculated by the Publish or Perish system.
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