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Article

Estimating copy numbers of alleles from population-scale high-throughput sequencing data.

BMC bioinformatics - 1 Jan 2015

Mimori Takahiro, Nariai Naoki, Kojima Kaname, Sato Yukuto, Kawai Yosuke, Yamaguchi-Kabata Yumi, Nagasaki Masao

Abstract excerpt

BACKGROUND: With the recent development of microarray and high-throughput sequencing (HTS) technologies, a number of studies have revealed catalogs of copy number variants (CNVs) and their association with phenotypes and complex traits. In parallel, a number of approaches to predict CNV regions and genotypes are proposed for both microarray and HTS data. However, only a few approaches focus on haplotyping of CNV...

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PMID: 25707811
DOI: 10.1186/1471-2105-16-S1-S4
PMCID: PMC4331703

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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