Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits
Bo Yuan, Katharina Schulze, Nurit Assia Batzir, Jefferson C. Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin‐To Fong, Jimmy Lloyd Holder, Joanne Nguyen, Christian Patrick Schaaf, Yaping Yang, Weimin Bi, Christine M. Eng, Chad A. Shaw, , Pengfei Liu
The paper demonstrates that recurrent genomic deletions mediated by nonallelic homologous recombination drive recessive disease burden and identifies new disease-contributing variants through exome reanalysis.
Genome Medicine · Sep 30, 2022Peer-reviewedGenetic & Genomic Medicine