We determined the whole-genome sequences of 150,119 individuals from the UK Biobank and identified more than 600 million sequence variants. The comprehensive data identify novel associations with ...

This is a preview. Log in through your library . Abstract Loss of the fragile X mental retardation protein (FMRP) causes fragile X syndrome (FXS). FMRP is widely thought to repress protein synthesis, ...

Using STING-seq, short for systematic targeting and inhibition of noncoding GWAS loci with single cell sequencing, Sanjana and his team identified promising sequence variants linked to various ...

Diagnosis sequencing is key to improving hospital ratings and rankings by industry groups like U.S. News & World Report, Leapfrog Group and Vizient. Manual processes for identifying high value cases, ...