The past year has witnessed substantial advances in understanding the genetic basis of many
common phenotypes of biomedical importance. These advances have been the result of …

The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing
disease-causing sequence variants from the many potentially functional variants present in …

… Li & G. Abecasis, unpublished data). Note that the same 2x average depth would not be
useful for genotype calling when examining a single individual—since, by chance, ∼37% of …

… Thus, the two alleles C and G at the positions 2 and 5 in this figure occur on the same … (g)
Users are advised to use simplest representation possible and lowest coordinate in …

The goal of the International HapMap Project is to determine the common patterns of DNA
sequence variation in the human genome and to make this information freely available in the …

The Sequence Alignment/Map (SAM) format is a generic alignment format for storing read
alignments against reference sequences, supporting short and long reads (up to 128 Mbp) …

… is used, if available, and—when it is unavailable—METAL automatically resolves strand
mismatches for markers where strand is obvious (eg all SNPs except those with A/T and C/G …

… BMI units heavier than homozygotes for the common “G” allele. To replicate our findings, we
… BMI units heavier than homozygotes for the more common “G” allele. In summary, we have …

… fractions L(G|θ) and also assuming that all markers are unlinked, L(G|θ=½). We then mark,
in turn, each genotype g as unknown and updated these likelihoods to obtain L(G\g|θ) and L(…

Background High plasma HDL cholesterol is associated with reduced risk of myocardial
infarction, but whether this association is causal is unclear. Exploiting the fact that genotypes are …