mirTrios: An integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing

Journal of Medical Genetics

Volumn 52, Issue 4, 2015, Pages 275-281

  Li, Jinchen ^a,b,c   Jiang, Yi ^b   Wang, Tao ^b   Chen, Huiqian ^b   Xie, Qing ^b   Shao, Qianzhi ^b   Ran, Xia ^b   Xia, Kun ^c   Sun, Zhong Sheng ^a,b   Wu, Jinyu ^a,b  

^a INSTITUTE OF GEOLOGY AND GEOPHYSICS   (China)

^b WENZHOU MEDICAL UNIVERSITY   (China)

^c CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; ARTICLE; AUTISM; DE NOVO MUTATION; EXOME; FALSE POSITIVE RESULT; GENE MUTATION; GENOTYPE; HAPLOTYPE; HIGH MYOPIA; HUMAN; MIRTRIOS; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; SANGER SEQUENCING; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS; WEB BROWSER; BIOLOGICAL MODEL; BIOLOGY; DNA SEQUENCE; GENETIC SCREENING; HIGH THROUGHPUT SEQUENCING; MUTATION; NUCLEOTIDE SEQUENCE; PROCEDURES;

COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MODELS, GENETIC; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84930633721     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102656     Document Type: Article

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