Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

Nature Communications

Volumn 8, Issue 1, 2017, Pages

  Balasubramanian, Suganthi ^a,e   Fu, Yao ^a,f   Pawashe, Mayur ^a   McGillivray, Patrick ^a   Jin, Mike ^a   Liu, Jeremy ^a   Karczewski, Konrad J ^b,c   MacArthur, Daniel G ^b,c   Gerstein, Mark ^a,d  

^a YALE UNIVERSITY   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d Yale University   (United States)

^e AB)   (United States)

^f Part of Roche Sequencing   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; CANCER; GENE EXPRESSION; HETEROZYGOSITY; PROTEIN;

ARTICLE; AUTISM; DOMINANT GENE; EXOME; FRAMESHIFT MUTATION; GAIN OF FUNCTION MUTATION; GENE FREQUENCY; GENE MAPPING; GENETIC CODE; GENETIC CONSERVATION; GENETIC DISORDER; GENETIC PREDISPOSITION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LOSS OF FUNCTION MUTATION; MALIGNANT NEOPLASM; MENDELIAN DISEASE; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; MOUSE; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; POPULATION GENETICS; PREDICTION; PROTEIN PROTEIN INTERACTION; RANDOM FOREST; RECESSIVE GENE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; STOP CODON; TUMOR GENE; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; GENETIC DATABASE; GENETICS; NEOPLASM;

AUTISTIC DISORDER; DATABASES, GENETIC; EXOME; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOSS OF FUNCTION MUTATION; MOLECULAR SEQUENCE ANNOTATION; NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 85028474605     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/s41467-017-00443-5     Document Type: Article

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