Copy number analysis from genome sequencing data of 11,754 rare disease parent-child trios: a model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy (2024)

First Author: Olinger E
Attributed to:  Rare Disease Research Platform: The renal ciliopathies national network (RCNN) funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.gimo.2024.101834

Publication URI: http://dx.doi.org/10.1016/j.gimo.2024.101834

Type: Journal Article/Review

Parent Publication: Genetics in Medicine Open