Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes
Yingxi Wang, Eleanor I. Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Sophia Tracy, Ying‐Chen Claire Hou, Christopher Markovic, Kostandin Valle, Victoria Tate, Khadija Belhassan, Elizabeth L. Appelbaum, Titilope M. Akinwe, Rodrigo Tzovenos Starosta, Yang Cao, , Tychele N. Turner
This study uses whole-genome sequencing to analyze 9p deletion and duplication syndromes, identifying key genes and structural variants, and introduces a machine learning model for syndrome prediction.
Genome Medicine · Oct 24, 2025Peer-reviewedGenetic & Genomic Medicine