Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data | Zendy

Timothy H. Webster | Zendy; Madeline Couse | Zendy; Bruno M. Grande | Zendy; Eric Karlins | Zendy; Tanya N. Phung | Zendy; Phillip A. Richmond | Zendy; Whitney Whitford | Zendy; Melissa A. Wilson | Zendy

Open Access

Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data

Author(s) -

Timothy H. Webster,

Madeline Couse,

Bruno M. Grande,

Eric Karlins,

Tanya N. Phung,

Phillip A. Richmond,

Whitney Whitford,

Melissa A. Wilson

Publication year - 2019

Publication title -

gigascience

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.947

H-Index - 54

ISSN - 2047-217X

DOI - 10.1093/gigascience/giz074

Subject(s) - biology , genetics , genomics , computational biology , reference genome , dna sequencing , genome , exome sequencing , gene , mutation

Mammalian X and Y chromosomes share a common evolutionary origin and retain regions of high sequence similarity. Similar sequence content can confound the mapping of short next-generation sequencing reads to a reference genome. It is therefore possible that the presence of both sex chromosomes in a reference genome can cause technical artifacts in genomic data and affect downstream analyses and applications. Understanding this problem is critical for medical genomics and population genomic inference.

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