Identification of deleterious synonymous variants in human genomes | Zendy

Orion J. Buske | Zendy; Ashok Kumar Manickaraj | Zendy; Seema Mital | Zendy; Peter N. Ray | Zendy; Michael Brudno | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Identification of deleterious synonymous variants in human genomes

Author(s) -

Orion J. Buske,

Ashok Kumar Manickaraj,

Seema Mital,

Peter N. Ray,

Michael Brudno

Publication year - 2013

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btt308

Subject(s) - biology , identification (biology) , genome , in silico , genetics , computational biology , genomics , prioritization , mutation , human genome , 1000 genomes project , single nucleotide polymorphism , gene , genotype , botany , management science , economics

The prioritization and identification of disease-causing mutations is one of the most significant challenges in medical genomics. Currently available methods address this problem for non-synonymous single nucleotide variants (SNVs) and variation in promoters/enhancers; however, recent research has implicated synonymous (silent) exonic mutations in a number of disorders.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research