Genetic & Genomic MedicinemedRxivPreprint
Exome re-analysis driven by deep phenotyping increases diagnostic yield
Atanu Kumar Dutta, Niladri Sekhar Bhunia, Rohit Bhowmick…·Anbu Kayalvizhi C.
Re-analyzing negative exome sequencing data with deep phenotyping identifies pathogenic variants in two patients with suspected Mendelian diseases.
DOI 10.1101/2022.09.13.22279858