A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project https://www.medrxiv.org/content/10.1101/2023.03.21.23287545
A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project https://www.medrxiv.org/content/10.1101/2023.03.21.23287545