A statistical variant calling approach from pedigree information and local haplotyping with phase informative reads | Zendy

Kaname Kojima | Zendy; Naoki Nariai | Zendy; Takahiro Mimori | Zendy; Mamoru Takahashi | Zendy; Yumi YamaguchiKabata | Zendy; Yukuto Sato | Zendy; Masao Nagasaki | Zendy

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A statistical variant calling approach from pedigree information and local haplotyping with phase informative reads

Author(s) -

Kaname Kojima,

Naoki Nariai,

Takahiro Mimori,

Mamoru Takahashi,

Yumi YamaguchiKabata,

Yukuto Sato,

Masao Nagasaki

Publication year - 2013

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btt503

Subject(s) - haplotype , genotyping , genetics , computational biology , biology , computer science , sequence (biology) , haplotype estimation , loss of heterozygosity , genotype , allele , gene

Variant calling from genome-wide sequencing data is essential for the analysis of disease-causing mutations and elucidation of disease mechanisms. However, variant calling in low coverage regions is difficult due to sequence read errors and mapping errors. Hence, variant calling approaches that are robust to low coverage data are demanded.

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