Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene

STAR Protocols

Nicola de Prisco¹  Vincenzo A. Gennarino²  Winston Lee² 

[1] Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY 10032, USA;Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY 10032, USA;

关键词: Sequence analysis;    Health Sciences;    Clinical Protocol;    Genetics;    Sequencing;   

DOI  :  

来源: DOAJ

【 摘 要 】

Summary: Identifying a disease gene and determining its causality in patients can be challenging. Here, we present an approach to predicting the pathogenicity of deletions and missense variants for an autosomal dominant gene. We provide online resources for identifying patients and determining constraint metrics to isolate the causal gene among several candidates encompassed in a shared region of deletion. We also provide instructions for optimizing functional annotation programs that may be otherwise inaccessible to a nonexpert or novice in computational approaches.For complete details on the use and execution of this protocol, please refer to Gennarino et al. (2018).

【 授权许可】

Unknown