Saturation genome editing of RNU4-2 identifies the functional and clinical impact of variants across the entire gene and delineates variants that cause a new recessive neurodevelopmental disorder distinct from ReNU syndrome.

To understand the relative contributions of 5ʹ UTR elements to translation output, we performed a comprehensive analysis of upstream open reading fram…

Population-scale whole-genome sequencing data will contain many individual-level genotype errors, even after allele-level quality control (QC). We establish the need for genotype-level QC using UK Bio...

A new study, involving researchers at the Big Data Institute, has shown for the first time that a little-known gene, SLTM, plays a direct role in how fat is stored inside human cells. While large popu...

Overall and tissue-specific fat accumulation are associated with altered risk of cardiometabolic disease and mortality. By combining exome-wide association analysis of traits related to obesity and fa...

A genome-wide association study of age at onset of walking in over 70,000 infants found 11 significant loci. Age at onset of walking showed SNP heritability of 24%, a reliable polygenic score and gene...

Nature Genetics - Genome-wide analyses identify variants associated with infertility and reproductive hormone levels but find limited polygenic overlap between reproductive hormone levels and...

I will be racing my first Half Ironman triathlon in Zurich this June. It includ… Sophie Belman needs your support for Half Iron(wo)man for Meningitis Research

Assessing the influence of common mutations on rare disease risk.

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Summary There is an urgent need to identify better therapeutics for neurological and psychiatric diseases.