Jun 30, 2016

Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes

Bioinformatics
Jacob Shujui HsuMiao-Xin Li

Abstract

Exome sequencing studies have facilitated the detection of causal genetic variants in yet-unsolved Mendelian diseases. However, the identification of disease causal genes among a list of candidates in an exome sequencing study is still not fully settled, and it is often difficult to prioritize candidate genes for follow-up studies. The inheritance mode provides crucial information for understanding Mendelian diseases, but none of the existing gene prioritization tools fully utilize this information. We examined the characteristics of Mendelian disease genes under different inheritance modes. The results suggest that Mendelian disease genes with autosomal dominant (AD) inheritance mode are more haploinsufficiency and de novo mutation sensitive, whereas those autosomal recessive (AR) genes have significantly more non-synonymous variants and regulatory transcript isoforms. In addition, the X-linked (XL) Mendelian disease genes have fewer non-synonymous and synonymous variants. As a result, we derived a new scoring system for prioritizing candidate genes for Mendelian diseases according to the inheritance mode. Our scoring system assigned to each annotated protein-coding gene (N = 18 859) three pathogenic scores according to the in...Continue Reading

Mentioned in this Paper

Community Health Networks
Study
Follow-up
Genes
Pathogenic Organism
Candidate Disease Gene
Intolerance Function
Bio-Informatics
Alzheimer's Disease
Symbiodinium sp. Cg

Related Feeds

Alzheimer's Disease: RNA Sequencing

RNA sequencing is used to reveal the presence and quantity of RNA in a given sample. In this feed, RNA sequencing investigates the genetic and molecular mechanisms related to the pathophysiology of Alzheimer's disease (AD). Here are the latest discoveries pertaining to RNA sequencing and this disease.

Alzheimer's Disease: Genes&Microglia

Genes and microglia are associated with the risk of developing and the progression of conditions such as Alzheimer's Disease (AD). Here are the latest discoveries pertaining to this disease.

Alzheimer's Disease: Transcription

Transcription involves copying (transcribing) the gene's DNA sequence into RNA. Impaired transcription is associated with the pathogenesis and progression of conditions such as Alzheimer's disease (AD). Here are the latest discoveries pertaining to transcription and this disease.

Alzheimer's Disease: Genetics

Alzheimer's disease is a chronic neurodegenerative disease. Discover genetic and epigenetic aspects of Alzheimer’s disease, including genetic markers and genomic structural variations here.