Reference population databases are an essential tool in variant and gene interpretation.
Their use guides the identification of pathogenic variants amidst the sea of benign variation …

BACKGROUND Human male infertility has a notable genetic component, including well-
established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and …

Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …

Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …

Background Pediatric disorders include a range of highly penetrant, genetically
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …

Measurement of the location of molecules in tissues is essential for understanding tissue
formation and function. Previously, we developed Slide-seq, a technology that enables …

DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a
wide range of genetic determinants. However, a comprehensive analysis of these data, in …

Genome-wide association studies have successfully discovered thousands of common
variants associated with human diseases and traits, but the landscape of rare variations in …