Wellcome Sanger Institute

Researchers saw an over-representation of rarer variants in isolated groups when they sequenced thousands of individuals from 10 European populations.

Researchers led by the Wellcome Trust Sanger Institute also reported that combined chromothripsis and amplification might be a driving mechanism of osteosarcoma.

Researchers applied a SNP heritability model called LDAK to genetic data for a range of human traits, uncovering relatively high levels of variance explained by SNPs.

Copy number alterations in red blood cell invasion receptor-related genes that are more common in some African populations appear to protect against severe malaria.

Researchers profiled the genotypes and phenotypes for more than 700 induced pluripotent stem cell lines, uncovering between-individual sources of variation. 

A comparison of unstimulated and stimulated CD4+ T cells from young and old mice in two subspecies showed rising cell-to-cell expression variability with age.

The researchers used SC3 to uncover subclones within samples from patients with pre-malignant tumors.

Researchers found mutations thought to be associated with embryo development and used them to recreate early cellular life in the human body.

Using a new mathematical model, researchers uncovered mutational signatures related to homologous recombination deficiency in up to one-fifth of breast cancers.

A retrospective analysis of Enterococcus faecium isolates from a UK hospital provided clues to infection sources and antibiotic resistance patterns.