PIWI-interacting RNAs (piRNAs) are a class of small non-coding RNAs that associate with
proteins of the PIWI clade of the Argonaute family. First identified in animal germ line cells …

More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

The vast majority of missense variants observed in the human genome are of unknown
clinical significance. We present AlphaMissense, an adaptation of AlphaFold fine-tuned on …

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 …

This paper presents the concepts of “neurodiversity” and the “neurodiversity approaches”
towards disability and discusses how confusion regarding the meaning of these concepts …

Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …

Transcription factors (TFs) regulate gene programs, thereby controlling diverse cellular
processes and cell states. To comprehensively understand TFs and the programs they …

Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that are thought to underlie, or …

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

The field of psychiatry is hampered by a lack of robust, reliable and valid biomarkers that can
aid in objectively diagnosing patients and providing individualized treatment …