Exome re-analysis driven by deep phenotyping increases diagnostic yield
Atanu Kumar Dutta, Niladri Sekhar Bhunia, Rohit Bhowmick, Nihar Ranjan Mishra, Rimjhim Sonowal, Kalyan Goswami, Anbu Kayalvizhi C.
Re-analyzing negative exome sequencing data with deep phenotyping identifies pathogenic variants in two patients with suspected Mendelian diseases.
medRxiv · Sep 13, 2022 · PreprintGenetic & Genomic Medicine