M. Singh

Rare copy number variation in Post-traumatic stress disorder using whole genome sequencing and biobank data

Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

RGP demonstrates that a research-based, patient-driven remote sequencing study can effectively bridge a diagnostic gap for rare disease families underserved in current clinical care and underscores the clinical utility of GS with frequent re-analysis.

Prioritizing Genes and Rare Protein-Coding Variants in Acute Myeloid Leukemia via Whole Genome Sequencing Data

These findings demonstrate that leveraging whole-genome sequencing in large-scale biobanks enables the identification of rare protein-coding variants, genes, and gene sets associated with AML.