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Applications of the 1000 Genomes Project resources
Author(s) -
Xiangqun Zheng-Bradley,
Paul Flicek
Publication year - 2016
Publication title -
briefings in functional genomics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.22
H-Index - 67
eISSN - 2041-2647
pISSN - 2041-2649
DOI - 10.1093/bfgp/elw027
Subject(s) - biology , genome , 1000 genomes project , exome , imputation (statistics) , genome wide association study , computational biology , exome sequencing , genetics , reference genome , human genome , population , genetic variation , genetic association , evolutionary biology , genotype , single nucleotide polymorphism , gene , mutation , missing data , computer science , machine learning , demography , sociology
The 1000 Genomes Project created a valuable, worldwide reference for human genetic variation. Common uses of the 1000 Genomes dataset include genotype imputation supporting Genome-wide Association Studies, mapping expression Quantitative Trait Loci, filtering non-pathogenic variants from exome, whole genome and cancer genome sequencing projects, and genetic analysis of population structure and molecular evolution. In this article, we will highlight some of the multiple ways that the 1000 Genomes data can be and has been utilized for genetic studies.

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