William Phu

The paper quantifies regional missense mutational intolerance using 730,947 exomes to identify constrained gene regions and improve variant interpretation.

The paper examines how the 3D genome landscape and disease influence the functional associations of human genes based on their evolutionary age and lineage restriction.

Rare-variant depletion in 1kb windows of 76,156 gnomAD genomes, versus feature-adjusted mutation expectations, marks regulatory elements and outperforms seven alternative scores at flagging functional non-coding variants.

This study maps RNA translation dynamics in the human brain using ribosome profiling, identifying thousands of novel translation events and brain-specific microproteins linked to schizophrenia.

seqr is a web-based tool for analyzing rare disease genomic data, enabling variant filtering, annotation, and collaboration, with over 10,000 families analyzed and 300 novel disease genes discovered.