Given the unprecedented tools that are now available for rapidly comparing genomes, the
identification and study of genetic and genomic changes that are unique to our species have …

Here we describe the insights gained from sequencing the whole genomes of 2,636
Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions …

Loss-of-function mutations cause many mendelian diseases. Here we aimed to create a
catalog of autosomal genes that are completely knocked out in humans by rare loss-of …

Breakpoint analysis of the large chromosomal rearrangements which have occurred during
primate evolution promises to yield new insights into the underlying mechanisms of …

Insertions and deletions (indels) represent the second most common type of genetic
variations in human genomes. Indels can be deleterious and contribute to disease …

Each human has approximately 50 to 280 frameshifting indels, yet their implications are
unknown. We created SIFT Indel, a prediction method for frameshifting indels that has 84 …

Here we use whole-genome de novo assembly of second-generation sequencing reads to
map structural variation (SV) in an Asian genome and an African genome. Our approach …

Substantial intrastrain variation at the nucleotide level complicates molecular and genetic
studies in zebrafish, such as the use of CRISPRs or morpholinos to inactivate genes. In the …

Domesticated organisms have experienced strong selective pressures directed at genes or
genomic regions controlling traits of biological, agricultural or medical importance. The …

Background The effect of alignment gaps on phylogenetic accuracy has been the subject of
numerous studies. In this study, we investigated the relationship between the total number of …