Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing

PLoS ONE

Volumn 9, Issue 1, 2014, Pages

  Park, Mi Hyun ^a   Rhee, Hwanseok ^b   Park, Jung Hoon ^b   Woo, Hae Mi ^a   Choi, Byung Ok ^c   Kim, Bo Young ^a   Chung, Ki Wha ^d   Cho, Yoo Bok ^e   Kim, Hyung Jin ^a   Jung, Ji Won ^a   Koo, Soo Kyung ^a  

^a Korea National Institute of Health   (South Korea)

^b Macrogen Inc   (South Korea)

^c Sungkyunkwan University   (South Korea)

^d Kongju National University   (South Korea)

^e Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; COST CONTROL; GENETIC PARAMETERS; GENETIC PROCEDURES; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAPPING QUALITY; NEXT GENERATION SEQUENCING; REFERENCE VALUE; SANGER SEQUENCING; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM QUALITY; STRAND BIAS; TOTAL READ DEPTH; VALIDATION PROCESS;

ALGORITHMS; CHARCOT-MARIE-TOOTH DISEASE; EXOME; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84900390825     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0086664     Document Type: Article

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