The Curation of Genetic Variants: Difficulties and Possible Solutions

Genomics, Proteomics and Bioinformatics

Volumn 10, Issue 6, 2012, Pages 317-325

  Pandey, Kapil Raj ^a,b   Maden, Narendra ^a,c   Poudel, Barsha ^d   Pradhananga, Sailendra ^a,e   Sharma, Amit Kumar ^a,e  

^a Deerwalk Services   (Nepal)

^b BANGALORE UNIVERSITY   (India)

^c TRIBHUVAN UNIVERSITY   (Nepal)

^d WAGENINGEN UNIVERSITY   (Netherlands)

^e KATHMANDU UNIVERSITY   (Nepal)

Author keywords

Automated curation; Difficulties in curation; Interpretation of variants; Manual curation

Indexed keywords

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; AMINO ACID SEQUENCE; CODON; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOTYPE; MISSENSE MUTATION; NOMENCLATURE; NONSENSE MUTATION; PHENOTYPE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; DATABASES, GENETIC; DOCUMENTATION; GENES; GENETIC VARIATION; HUMANS; SOFTWARE; TERMINOLOGY AS TOPIC;

EID: 84872395054     PISSN: 16720229     EISSN: 22103244     Source Type: Journal    
DOI: 10.1016/j.gpb.2012.06.006     Document Type: Review

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