The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome

PLoS Computational Biology

Volumn 11, Issue 12, 2015, Pages

  Bartha, István ^a,b   Rausell, Antonio ^a   McLaren, Paul J ^a,b   Mohammadi, Pejman ^a,c   Tardaguila, Manuel ^a   Chaturvedi, Nimisha ^a,b   Fellay, Jacques ^a,b   Telenti, Amalio ^d  

^a SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^b EPFL   (Switzerland)

^c ETH ZURICH   (Switzerland)

^d J CRAIG VENTER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEINS;

FRAMESHIFT; HUMAN GENES; HUMAN GENOMES; PHENOTYPIC TRAITS; PROTEIN-CODING GENES;

GENES;

ARTICLE; CONTROLLED STUDY; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HUMAN GENOME; MUTATIONAL ANALYSIS; PHENOTYPE; PROTEIN DETERMINATION; PROTEIN STRUCTURE, FUNCTION AND VARIABILITY; PROTEIN TRUNCATING VARIANT; SEQUENCE ANALYSIS; CHROMOSOMAL MAPPING; GENETIC VARIATION; GENETICS; HUMAN; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PROCEDURES; STOP CODON;

PROTEIN; STOP CODON;

BASE SEQUENCE; CHROMOSOME MAPPING; CODON, NONSENSE; GENETIC VARIATION; GENOME, HUMAN; HUMANS; MOLECULAR SEQUENCE DATA; PROTEINS;

EID: 84953220167     PISSN: 1553734X     EISSN: 15537358     Source Type: Journal    
DOI: 10.1371/journal.pcbi.1004647     Document Type: Article

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