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A global reference for human genetic variation
  • Adam Gonçalo R. David M. Richard M. Gonçalo R. David R. Auton Abecasis Altshuler Durbin Abecasis Bentley C, A. Auton, Shane A. McCarthy
  • Biology
    Nature
  • 30 September 2015
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.
Finding the missing heritability of complex diseases
Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture.
The Sequence of the Human Genome
TLDR
Comparative genomic analysis indicates vertebrate expansions of genes associated with neuronal function, with tissue-specific developmental regulation, and with the hemostasis and immune systems are indicated.
Genomic scans for selective sweeps using SNP data.
TLDR
This work shows that a new parametric test, based on composite likelihood, has a high power to detect selective sweeps and is surprisingly robust to assumptions regarding recombination rates and demography (i.e., has low Type I error).
Evolution of genes and genomes on the Drosophila phylogeny
TLDR
These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution.
The Genome Sequence of the Malaria Mosquito Anopheles gambiae
TLDR
Analysis of the PEST strain of A. gambiae revealed strong evidence for about 14,000 protein-encoding transcripts, and prominent expansions in specific families of proteins likely involved in cell adhesion and immunity were noted.
Natural selection shaped regional mtDNA variation in humans
TLDR
It is concluded that selection may have played a role in shaping human regional mtDNA variation and that one of the selective influences was climate.
Evolutionary changes in cis and trans gene regulation
TLDR
The distribution of cis- and trans-regulatory changes underlying expression differences between closely related Drosophila species is examined, and data indicate that interspecific expression differences are not caused by select trans-Regulatory changes with widespread effects, but rather by many cis-acting changes spread throughout the genome.
Inference of haplotypes from PCR-amplified samples of diploid populations.
  • A. Clark
  • Biology
    Molecular biology and evolution
  • 1 March 1990
TLDR
Details of the algorithm for extracting allelic sequences from population samples, along with some population-genetic considerations that influence the likelihood for success of the method, are presented here.
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