A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner
Toni A. Boltz, Benjamin B. Chu, Calwing Liao, Julia Sealock, Robert Ye, Lerato Majara, Jack M. Fu, Susan K. Service, Lingyu Zhan, Sarah Elizabeth Medland, Sinéad B. Chapman, Simone Rubinacci, Matthew T. DeFelice, Jonna Grimsby, Tamrat Abebe, , Alicia R. Martin
The paper introduces BGE, a sequencing method that combines low-pass whole genome and deep whole exome data, showing high accuracy and cost-effectiveness for genetic variant discovery.
bioRxiv · Sep 6, 2024 · PreprintGenomics