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 …

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 …

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 …

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

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

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder
characterized by communication and social behavior deficits. The presence of restricted and …

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 …

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 …

Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …

Psychiatric disorders are highly prevalent, often devastating diseases that negatively impact
the lives of millions of people worldwide. Although their etiological and diagnostic …