title: Short reads phasing to construct haplotypes in genomic regions that are associated with body mass index in korean individuals.
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.
authors.affiliation: Department of Bioinformatics and Life Science, Soongsil University, Seoul 156-743, Korea.
authors.forename: Kichan
authors.initials: K
authors.lastname: Lee
authors.affiliation: Department of Bioinformatics and Life Science, Soongsil University, Seoul 156-743, Korea.
authors.forename: Seonggyun
authors.initials: S
authors.lastname: Han
authors.affiliation: Department of Bioinformatics and Life Science, Soongsil University, Seoul 156-743, Korea.
authors.forename: Yeonjeong
authors.initials: Y
authors.lastname: Tark
authors.affiliation: Department of Bioinformatics and Life Science, Soongsil University, Seoul 156-743, Korea.
authors.forename: Sangsoo
authors.initials: S
authors.lastname: Kim
keywords: Korea; NGS; genome-wide association study; haplotypes; phasing; single-nucleotide polymorphism