scispace - formally typeset
Open AccessJournal ArticleDOI

A global reference for human genetic variation.

Adam Auton, +517 more
- 01 Oct 2015 - 
- Vol. 526, Iss: 7571, pp 68-74
TLDR
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.
Abstract
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies.

read more

Citations
More filters
Book ChapterDOI

Circular RNA Splicing

TL;DR: This chapter will review the formation of circular RNAs and highlight the derivation of different types of circular RNA as products or intermediates of tRNA and rRNA maturation in archaea.
Journal ArticleDOI

A linear mixed-model approach to study multivariate gene-environment interactions

TL;DR: The structured linear mixed model (StructLMM), a computationally efficient method to identify and characterize loci that interact with one or more environments, is proposed and applied to UK Biobank and eQTL data, finding new G×E signals.
Journal ArticleDOI

Single-cell eQTL mapping identifies cell type–specific genetic control of autoimmune disease

TL;DR: This work brings together genetic epidemiology with scRNA-seq to uncover drivers of interindividual variation in the immune system and investigates how eQTLs affect the expression variation of essential immune genes in specific cell types and provided experimental support for established hypotheses of cellular mechanisms in complex autoimmune diseases.
References
More filters
Journal ArticleDOI

Basic Local Alignment Search Tool

TL;DR: A new approach to rapid sequence comparison, basic local alignment search tool (BLAST), directly approximates alignments that optimize a measure of local similarity, the maximal segment pair (MSP) score.
Journal ArticleDOI

The Sequence Alignment/Map format and SAMtools

TL;DR: SAMtools as discussed by the authors implements various utilities for post-processing alignments in the SAM format, such as indexing, variant caller and alignment viewer, and thus provides universal tools for processing read alignments.
Journal ArticleDOI

BEDTools: a flexible suite of utilities for comparing genomic features

TL;DR: A new software suite for the comparison, manipulation and annotation of genomic features in Browser Extensible Data (BED) and General Feature Format (GFF) format, which allows the user to compare large datasets (e.g. next-generation sequencing data) with both public and custom genome annotation tracks.
Journal ArticleDOI

An integrated encyclopedia of DNA elements in the human genome

TL;DR: The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research.
Journal ArticleDOI

The variant call format and VCFtools

TL;DR: VCFtools is a software suite that implements various utilities for processing VCF files, including validation, merging, comparing and also provides a general Perl API.
Related Papers (5)