Let’s take a look at the 1000 Genomes project for some examples. Phase 3 of the 1000 Genomes Project was released in 2014. The latest major update to the autosomal data, version 5, was released in September. This iteration of the 1000 Genomes Project (1kGP) includes whole-genome ...
The 1000 Genomes Project led to the generation of imputation reference panels which have been used globally. However, recent studies have shown that population-specific panels provide better enrichment of genome-wide variants. We compared the imputation accuracy using 1000 Genomes phase 3 reference ...
Inclusion of Population-specific Reference Panel from India to the 1000 Genomes Phase 3 Panel Improves Imputation AccuracyImputation is a computational method based on the principle of haplotype sharing allowing enrichment of genome-wide ... M Ahmad,A Sinha,S Ghosh,... - 《Scientific Reports》 被...
The hormones DHEAS, FSH, LH, SHBG, testosterone and oestradiol have been included in previously published GWAS, and we have compared our results with these existing data.2,4,7–10 This study is, to our knowledge, one of the first published GWAS of hormones using 1000 Genomes Phase I ...
These technologies were at the heart of the decision in 2007 to launch the 1000 Genomes Project, an effort to comprehensively characterize human variation in multiple populations. In the pilot phase of the project, the data helped create an extensive population-scale view of human genetic variation...
1000 GenomesMissing persons identificationMassively parallel sequencingIn a directed search of 1000 Genomes Phase III variation data, 271,934 tri-allelic single nucleotide polymorphisms (SNPs) were identified amongst the genotypes of 2,504 individuals from 26 populations. The majority of tri-allelic SNPs...
Comparing the SNPTools pipeline to our pipeline for the 1000 Genomes Phase 3 variant calling task.Suyash S. ShringarpureAndrew CarrollFrancisco M. De La VegaCarlos D. Bustamante
Variant calling on the GRCh38 assembly with the data from phase three of the 1000 Genomes The 1000 Genomes Project produced more than 100 trillion basepairs of short read sequence from more than 2600 samples in 26 populations over a period of fi... E Lowy-Gallego,S Fairley,H Zheng-Bradley...
Phase I 1000 Genomes Project data characteristics.Carrie, B. MooreJohn, R. WallaceDaniel, J. WolfeAlex, T. FraseSarah, A. PendergrassKenneth, M. WeissMarylyn, D. Ritchie
Discussion Over the past year, the 1000 Genomes phase 1 haplotypes have been extensively used in many genetic studies, most of the time as reference panel to carry out GWAS imputation. In this paper, we showed that using the SHAPEIT2 phasing model, and integrating phased SNP array data, ...