Richard Durbin

TL;DR: This study outlines the major sources of genetic and phenotypic variation in iPS cells and establishes their suitability as models of complex human traits and cancer.

TL;DR: The results suggest that there has been gene flow between some Native Americans from both North and South America and groups related to East Asians and Australo-Melanesians, the latter possibly through an East Asian route that might have included ancestors of modern Aleutian Islanders.

TL;DR: The role of cis-regulatory variation in three human tissues: lymphoblastoid cell lines, skin, and fat is explored and it is proposed that continuous estimates of the proportion of tissue-shared signals and direct comparison of the magnitude of effect on the fold change in expression are essential properties that jointly provide a biologically realistic view of tissues-specificity.

TL;DR: BCFtools/RoH is presented and evaluated, an extension to the BCFtools software package, that detects regions of autozygosity in sequencing data, in particular exome data, using a hidden Markov model and it is shown that it has higher sensitivity and specificity than existing methods under a range of sequencing error rates and levels of autozykgosity.

TL;DR: The aims of Ensembl are to "widen" this biological integration to include other model organisms relevant to understanding human biology as they become available; to "deepen" this integration to provide an ever more seamless linkage between equivalent components in different species; and to provide further classification of functional elements in the genome that have been previously elusive.