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UnknownCost-effectiveness of replacing versus discarding the nail in children with nail bed injury.
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S-EPMC10416701 | biostudies-literature
UnknownThe functional spectrum of low-frequency coding variation.

Background

Rare coding variants constitute an important class of human genetic variation, but are underrepresented in current databases that are based on small population samples. Recent studies show that variants altering amino acid sequence and protein function are enriched at low variant ...
S-EPMC3308047 | biostudies-literature
UnknownIntegrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel.
A major use of the 1000 Genomes Project (1000 GP) data is genotype imputation in genome-wide association studies (GWAS). Here we develop a method to estimate haplotypes from low-coverage sequencing data that can take advantage of single-nucleotide polymorphism (SNP) microarray genotypes on the same ...
S-EPMC4338501 | biostudies-literature
UnknownThe 1000 Genomes Project: data management and community access.
The 1000 Genomes Project was launched as one of the largest distributed data collection and analysis projects ever undertaken in biology. In addition to the primary scientific goals of creating both a deep catalog of human genetic variation and extensive methods to accurately discover and characteri...
S-EPMC3340611 | biostudies-literature
UnknownIntegrative annotation of variants from 1092 humans: application to cancer genomics.
Interpreting variants, especially noncoding ones, in the increasing number of personal genomes is challenging. We used patterns of polymorphisms in functionally annotated regions in 1092 humans to identify deleterious variants; then we experimentally validated candidates. We analyzed both coding and...
S-EPMC3947637 | biostudies-literature
UnknownA map of human genome variation from population-scale sequencing.
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for g...
S-EPMC3042601 | biostudies-literature
UnknownDiversity of human copy number variation and multicopy genes.
Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read mapping depth for 159 human genomes, we demonstrated accurate estimation of absolute copy number for du...
S-EPMC3020103 | biostudies-literature
UnknownDemographic history and rare allele sharing among human populations.
High-throughput sequencing technology enables population-level surveys of human genomic variation. Here, we examine the joint allele frequency distributions across continental human populations and present an approach for combining complementary aspects of whole-genome, low-coverage data and targete...
S-EPMC3142009 | biostudies-literature
UnknownHuman genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.

Background

Population differentiation has proved to be effective for identifying loci under geographically localized positive selection, and has the potential to identify loci subject to balancing selection. We have previously investigated the pattern of genetic differentiation among human p...
S-EPMC4197830 | biostudies-literature
UnknownAn integrated map of genetic variation from 1,092 human genomes.
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of ...
S-EPMC3498066 | biostudies-literature
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