1000 Genomes Project
The analysis of APOL1 genetic variation and haplotype diversity provided by 1000 Genomes project
... in 1000 Genomes Project (Phase ...in 1000 Genomes Project (Phase ...in 1000 Genomes Project (Phase ...in 1000 Genomes Project (Phase ...
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Mycoplasma contamination in the 1000 Genomes Project
... Mycoplasma genomes for 75 879 DNA sequences drawn from The 1000 Genomes Project (but does not match them with the human reference genome) the accuracy of the match varies con- ...The ...
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Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation
... study. UK BiLEVE is a particularly powerful study since it has sampled UK Biobank individuals from the extremes of the lung function distribution, and it has spirometry performed in a uniform way across individuals. Had ...
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Evaluating aggregate effects of rare and common variants in the 1000 Genomes Project exon sequencing data using latent variable structural equation modeling
... The 1000 Genomes Project is an international public- private consortium aiming to build the most detailed map of human genetic variation with the overarching goal to improve our understanding of the ...
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Discovery of Western European R1b1a2 Y Chromosome Variants in 1000 Genomes Project Data: An Online Community Approach
... Population geneticists are in short supply, and most are involved in the important hunt for genetic factors responsible for susceptibility to disease [1]. Naturally, studies that address genetic susceptibility are ...
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Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation
... The descriptions of the lung eQTL dataset and subject demographics have been published previously 7-9 . Briefly, non-tumor lung tissues were collected from patients who underwent lung resection surgery at three ...
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Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies
... of 1000 genomes project reference panel between TxArray and other genome-wide genotyping platforms for variants with MAF ...the 1000 Genomes Project Phase I integrated reference ...
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Adaptively introgressed Neandertal haplotype at the OAS locus functionally impacts innate immune responses in humans
... the 1000 Genomes Project [20] at the 11 NLS falling within the bounds of the three OAS genes, based on the an- cient allele frequencies estimated by Mathieson et ...the 1000 Genomes ...
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FineMAV: prioritizing candidate genetic variants driving local adaptations in human populations
... FineMAV analysis in Admixed Americans and South Asians After the calibration of our method and an assessment of its performance in African, East Asian, and European populations, we applied it to the remaining 1000 ...
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BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge
... using 1000 Genomes Project whole-genome data, we used BioBin to identify features with significant differences in rare variant ...from 1000 Genomes ...
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The African Genome Variation Project shapes medical genetics in Africa
... the 1000 Genomes Project, North African and Khoe-San (Khoisan) populations in principal component analysis (Extended Data Figs 3–5, and Supplementary Figs 1 and 2) suggested possible HG ancestry ...
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Computational approaches to interpreting genomic sequence variation
... the 1000 Genomes Project to demonstrate that a wide range of annotated elements, including non-coding re- gions, show evidence of purifying selection in the human lineage, and their results identify ...
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Rare key functional domain missense substitutions in MRE11A, RAD50, and NBNcontribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case control mutation screening study
... 1000G: 1000 genomes project; Align-GVGD: Align Grantham variation Grantham deviation; ATM: ataxia telangiectasia mutated; BCFR: Breast Cancer Family Registry; BIC: Breast Cancer Information Core; bp: ...
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A genomic data viewer for iPad
... the 1000 Genomes project [3], RNA sequencing data from the Human lincRNA Catalog [4,5], based on Illumina ’ s Human BodyMap ...[7] project website ...
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Vcfanno: fast, flexible annotation of genetic variants
... the 1000 Genomes Project (phase 3; 85,273,413 decomposed VCF records) to demonstrate vcfanno ’s performance and scalability on both a whole-exome and a whole-genome dataset, ...and 1000 ...
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Clinical utility of the low-density Infinium QC genotyping Array in a genomics-based diagnostics laboratory
... with 1000 Genomes WGS, Illumina’s Infinium Omni ...the 1000 Genomes Project, as well as Infinium QC equivalent data of 645 individuals studied by the National Geno- graphic ...the ...
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Trans-ethnic follow-up of breast cancer GWAS hits using the preferential linkage disequilibrium approach
... We previously developed the novel preferential LD approach to identify causal variants that drive the GWAS signal of interest from a comprehensive genome-wide variant catalog [15]. This approach is premised on the notion ...
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Relaxed Selection During a Recent Human Expansion
... the 1000 Genomes Project Consortium et ...primate genomes (Homo sapiens, Pan troglodytes, Gorilla go- rilla, Pongo abelii, Macaca mulatta, and Callithrix jacchus) ...
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Comparison of HapMap and 1000 genomes reference panels in a large scale genome wide association study
... In contrast, the more recently released Phase 1 version 3 of the 1000 Genomes Project (1000G) is based on a larger set of individuals [15], and comprises nearly 40 million variants, including 1.4 ...
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Meeting report of the 2017 KidGen Renal Genetics Symposium
... The NEPTUNE study [11] is a North American cohort of NS patients that provided a laboratory to gain insights on the challenges of making a monogenic diagnosis in previously understudied populations. Patients with NS were ...
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