Interpreting functional effects of coding variants: Challenges in proteome-scale prediction, annotation and assessment

Briefings in Bioinformatics

Volumn 17, Issue 5, 2016, Pages 841-862

  Shameer, Khader ^a   Tripathi, Lokesh P ^b   Kalari, Krishna R ^c   Dudley, Joel T ^d   Sowdhamini, Ramanathan ^e  

^a MAHATMA GANDHI UNIVERSITY   (India)

^b TATA INSTITUTE OF FUNDAMENTAL RESEARCH   (India)

^c Development of computational methods in the context of cancer genomics and pharmacogenomics   (India)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e TATA INSTITUTE OF FUNDAMENTAL RESEARCH   (India)

Author keywords

Functional genomics; Functional variant; Human genome; Human proteome; Human variation; Mutation; Nonsynonymous mutations; Prediction algorithms; Sequence analysis; Structure analysis; Variant interpretation

Indexed keywords

PROTEOME;

GENETIC VARIATION; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN; SINGLE NUCLEOTIDE POLYMORPHISM;

GENETIC VARIATION; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEOME;

EID: 84995753391     PISSN: 14675463     EISSN: 14774054     Source Type: Journal    
DOI: 10.1093/bib/bbv084     Document Type: Article

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