Evidence map›Paper›PMID 25705154›Full record

ArticleGenomics & informatics2014

Short reads phasing to construct haplotypes in genomic regions that are associated with body mass index in korean individuals.

Kichan Lee, Seonggyun Han, Yeonjeong Tark, Sangsoo Kim

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Article in Genomics & informatics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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4 authors.

Kichan LeeDepartment of Bioinformatics and Life Science, Soongsil University, Seoul 156-743, Korea.
Seonggyun HanDepartment of Bioinformatics and Life Science, Soongsil University, Seoul 156-743, Korea.
Yeonjeong TarkDepartment of Bioinformatics and Life Science, Soongsil University, Seoul 156-743, Korea.
Sangsoo KimDepartment of Bioinformatics and Life Science, Soongsil University, Seoul 156-743, Korea.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome-wide association (GWA) studies have found many important genetic variants that affect various traits. Since these studies are useful to investigate untyped but causal variants using linkage disequilibrium (LD), it would be useful to explore the haplotypes of single-nucleotide polymorphisms (SNPs) within the same LD block of significant associations based on high-density variants from population references. Here, we tried to make a haplotype catalog affecting body mass index (BMI) through an integrative analysis of previously published whole-genome next-generation sequencing (NGS) data of 7 representative Korean individuals and previously known Korean GWA signals. We selected 435 SNPs that were significantly associated with BMI from the GWA analysis and searched 53 LD ranges nearby those SNPs. With the NGS data, the haplotypes were phased within the LDs. A total of 44 possible haplotype blocks for Korean BMI were cataloged. Although the current result constitutes little data, this study provides new insights that may help to identify important haplotypes for traits and low variants nearby significant SNPs. Furthermore, we can build a more comprehensive catalog as a larger dataset becomes available.

Indexed as

genome-wide association studyhaplotypesKoreaNGSphasingsingle-nucleotide polymorphism

Identifiers

PMID25705154
PMCPMC4330250

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