Open AccessmuCNV: genotyping structural variants for population-level sequencing
Author(s) -
Goo Jun,
Fritz J. Sedlazeck,
Qihui Zhu,
Adam C. English,
Ginger Metcalf,
Hyun Min Kang,
Charles Lee,
Richard A. Gibbs,
Eric Boerwinkle
Publication year - 2021
Publication title -
bioinformatics
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btab199
Subject(s) - genotyping , computer science , pipeline (software) , population , sample (material) , mendelian inheritance , computational biology , biology , genetics , genotype , gene , medicine , operating system , chemistry , environmental health , chromatography
There are high demands for joint genotyping of structural variations with short-read sequencing, but efficient and accurate genotyping in population scale is a challenging task.
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