Based on 6,447 exome sequences, the researchers estimated that every person is a carrier of at least two pathogenic variants in autosomal-recessive genes.
In PLOS this week: tool for uncovering gene-trait associations from transcriptome-wide association studies, analysis of gene amplification in bladder cancer, and more.
A pair of studies published this week present an analysis of a real, large-scale testing pooling effort as well as analyses of how to further improve such strategies.
