Exome-assistant: A rapid and easy detection of disease-related genes and genetic variations from exome sequencing

BMC Genomics

Volumn 13, Issue 1, 2012, Pages

  Liu, Qi ^a   Shen, Enjian ^a   Min, Qingjie ^a   Li, Xueying ^a   Wang, Xin ^a   Li, Xianfeng ^a   Sun, Zhong Sheng ^a,b   Wu, Jinyu ^a  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b INSTITUTE OF GEOLOGY AND GEOPHYSICS   (China)

Author keywords

Insertions and deletions; Mendelian disease; Minor allele frequency; Next generation sequencing; Single nucleotide polymorphisms; Variation filtering

Indexed keywords

ARTICLE; DATA ANALYSIS SOFTWARE; EXOME; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; INDEL MUTATION; INFORMATION PROCESSING; SINGLE NUCLEOTIDE POLYMORPHISM;

EXOME; GENE FREQUENCY; GENETIC DISEASES, INBORN; GENETIC VARIATION; HUMANS; MOLECULAR SEQUENCE ANNOTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SOFTWARE;

EID: 84870680379     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-13-692     Document Type: Article

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