Last Updated: 09/26/2026
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Found 14 publications
Integrating 730,947 exome sequences with clinical literature improves gene discovery.
Journal: medRxiv : the preprint server for health sciences
Published: April 03, 2026
Improved Allele Frequencies in gnomAD through Local Ancestry Inference.
Journal: bioRxiv : the preprint server for biology
Published: July 15, 2025
Improved allele frequencies in gnomAD through local ancestry inference.
Journal: Nature communications
Published: November 26, 2024
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.
Journal: bioRxiv : the preprint server for biology
Published: June 25, 2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomes.
Journal: bioRxiv : the preprint server for biology
Published: April 22, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Journal: medRxiv : the preprint server for health sciences
Published: April 08, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 22, 2024
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.
Journal: Nature
Published: January 15, 2024
A harmonized public resource of deeply sequenced diverse human genomes.
Journal: Genome research
Published: August 10, 2023
A harmonized public resource of deeply sequenced diverse human genomes.
Journal: bioRxiv : the preprint server for biology
Published: February 07, 2023
Last Updated: 09/26/2026