Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods

Human Mutation

Volumn 35, Issue 8, 2014, Pages 936-944

  Hwang, Kyu Baek ^a,b   Lee, In Hee ^a   Park, Jin Ho ^a,c   Hambuch, Tina ^d   Choe, Yongjoon ^a   Kim, Minhyeok ^e   Lee, Kyungjoon ^f   Song, Taemin ^b   Neu, Matthew B ^a   Gupta, Neha ^a   Kohane, Isaac S ^a,f   Green, Robert C ^g   Kong, Sek Won ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b Soongsil University   (South Korea)

^c Seoul National University Hospital   (South Korea)

^d ILLUMINA INC   (United States)

^e Seoul National University   (South Korea)

^f Harvard Medical School Center for Biomedical Informatics   (United States)

^g BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Ensemble genotyping; False positive; Incidental finding; Logistic regression; Whole genome sequencing

Indexed keywords

ARTICLE; CONSENSUS; CONTROLLED STUDY; EXTENDED FAMILY; FALSE POSITIVE RESULT; GENE DELETION; GENE INSERTION; GENE SEQUENCE; GENETIC ALGORITHM; GENOME ANALYSIS; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INCIDENTAL FINDING; LOGISTIC REGRESSION ANALYSIS; PREDICTIVE VALUE; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE GENOME SEQUENCING; ACUTE LYMPHOBLASTIC LEUKEMIA; ALGORITHM; GENE EXPRESSION REGULATION; GENETICS; GENOTYPING TECHNIQUE; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; LABORATORY DIAGNOSIS; MOLECULAR GENETICS; MUTATION; PEDIGREE; STATISTICAL MODEL; STATISTICS AND NUMERICAL DATA; TUMOR CELL LINE;

ALGORITHMS; CELL LINE, TUMOR; FALSE POSITIVE REACTIONS; GENOME, HUMAN; GENOTYPING TECHNIQUES; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; INCIDENTAL FINDINGS; LOGISTIC MODELS; MOLECULAR SEQUENCE ANNOTATION; MUTAGENESIS, INSERTIONAL; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA;

EID: 84904403560     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22587     Document Type: Article

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