Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we suggest a segmental haploid genetics approach to enhance gene discovery and molecular diagnostics.

Bibliographic Details

Main Authors:	Yuan, Bo (Author) , Schulze, Katharina V. (Author) , Assia Batzir, Nurit (Author) , Sinson, Jefferson (Author) , Dai, Hongzheng (Author) , Zhu, Wenmiao (Author) , Bocanegra, Francia (Author) , Fong, Chin-To (Author) , Holder, Jimmy (Author) , Nguyen, Joanne (Author) , Schaaf, Christian P. (Author) , Yang, Yaping (Author) , Bi, Weimin (Author) , Eng, Christine (Author) , Shaw, Chad (Author) , Lupski, James R. (Author) , Liu, Pengfei (Author)
Format:	Article (Journal)
Language:	English
Published:	30 September 2022
In:	Genome medicine Year: 2022, Volume: 14, Pages: 1-24
ISSN:	1756-994X
DOI:	10.1186/s13073-022-01113-y
Online Access:	Resolving-System, kostenfrei, Volltext: https://doi.org/10.1186/s13073-022-01113-y
Author Notes:	Bo Yuan, Katharina V. Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin-To Fong, Jimmy Holder, Joanne Nguyen, Christian P. Schaaf, Yaping Yang, Weimin Bi, Christine Eng, Chad Shaw, James R. Lupski and Pengfei Liu