Genetic and biochemical analysis reveal a variant in HSF2BP causing POI and C19ORF57/BRME1 as an interactor and stabilizer of HSF2BP by forming a complex with BRCA2, RAD51, RPA and PALB2.

A robust library preparation and variant calling strategy (DigiPico/MutLX) eliminates false positive single nucleotide variants from picogram quantities of DNA following whole genome amplification.

The single-cell eQTLGen consortium aims to pinpoint the cellular contexts in which disease-causing genetic variants affect gene expression and its regulation.

Mutations that allow tumors to evolve and become resistant to treatment can be readily identified with a new sequencing approach.

Strategies to improve public trust in biomedical research are being hindered by a scientific mindset that stifles interest in reform.

An analysis of review, promotion and tenure documents from 129 US and Canadian universities suggests institutions could better fulfill their public missions by changing how they incentivize the public dimensions of faculty work.

Although questionable research practices inflate false positive rates, they have little effect on replicability because they also increase power.

An analysis of worldwide human genetic variation reveals the footprints of ancient changes in genomic mutation processes.

A simulation study is used to demonstrate how mistakes in identifying the experimental unit and the unit of analysis can lead to incorrect analyses and inappropriate inferences when reporting research studies.

An analysis of papers in which two or more authors shared first-author position found that male authors were more likely than female authors to appear first in the author list.