Richard Durbin

TL;DR: A new method for sensitive detection of copy number alterations, aneuploidy, and contamination in cell lines using genome-wide SNP genotyping data is presented and results based on induced pluripotent stem cell lines obtained in the HipSci project are presented.

TL;DR: A novel pedigree sequence graph based approach to diploid assembly using accurate Illumina data and long-read Pacific Biosciences data from all related individuals is presented, thereby generalizing previous work on single individuals.

TL;DR: The vg toolkit as mentioned in this paper provides an efficient approach to mapping reads onto arbitrary variation graphs using generalized compressed suffix arrays, with improved accuracy over alignment to a linear reference, creating data structures to support downstream variant calling and genotyping.

TL;DR: In this article, the authors reported the retrieval of low-coverage (0.03×) environmental genomes from American black bear (Ursus americanus) and a 0.04× environmental genome of the extinct giant short-faced bear (Arctodus simus) from cave sediment samples from northern Mexico dated to 16-14 thousand calibrated years before present (cal kyr BP).

TL;DR: This work has shown that on the Syndip test set, a 17 fold reduction in the quality storage portion of a CRAM file can be achieved while maintaining variant calling accuracy.