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The Sequence Alignment/Map format and SAMtools
TLDR
Summary: The Sequence Alignment/Map (SAM) format is a generic alignment format for storing read alignments against reference sequences, supporting short and long reads produced by different sequencing platforms. Expand
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The variant call format and VCFtools
TLDR
We propose the variant call format (VCF) as a standardized format for storing the most prevalent types of sequence variation, including SNPs, indels and larger structural variants, together with rich annotations. Expand
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A global reference for human genetic variation
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 multipleExpand
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Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
Efforts to find disease genes using high-density single-nucleotide polymorphism (SNP) maps will produce data sets that exceed the limitations of current computational tools. Here we describe a new,Expand
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An 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. HereExpand
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A 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 presentExpand
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A second generation human haplotype map of over 3.1 million SNPs
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations andExpand
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MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes
Genome‐wide association studies (GWAS) can identify common alleles that contribute to complex disease susceptibility. Despite the large number of SNPs assessed in each study, the effects of mostExpand
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Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids
Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary arteryExpand
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Genetic studies of body mass index yield new insights for obesity biology
Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body massExpand
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