[HTML][HTML] Genomic data in the All of Us research program

All of Us Research Program Genomics Investigators - Nature, 2024 - ncbi.nlm.nih.gov
Comprehensively mapping the genetic basis of human disease across diverse individuals is
a long-standing goal for the field of human genetics 1–4. The All of Us Research Program is …

The 3D mutational constraint on amino acid sites in the human proteome

B Li, DM Roden, JA Capra - Nature communications, 2022 - nature.com
Quantification of the tolerance of protein sites to genetic variation has become a cornerstone
of variant interpretation. We hypothesize that the constraint on missense variation at …