GATK hard filtering: Tunable parameters to improve variant calling for next generation sequencing targeted gene panel data

BMC Bioinformatics

Volumn 18, Issue , 2017, Pages

  De Summa, Simona ^a   Malerba, Giovanni ^b   Pinto, Rosamaria ^a   Mori, Antonio ^b   Mijatovic, Vladan ^b   Tommasi, Stefania ^a  

^a NATIONAL CANCER INSTITUTE GIOVANNI PAOLO II   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

Author keywords

Indel; NGS; SNV; Targeted gene panel; Variant calling; Variant filtering

Indexed keywords

BIOINFORMATICS; CLASSIFICATION (OF INFORMATION); GENES; IMAGE SEGMENTATION;

CLASSIFICATION TREES; INDEL; NEXT-GENERATION SEQUENCING; PROPRIETARY SOFTWARE; STANDARD CONDITIONS; STANDARD PROTOCOLS; TARGETED GENE PANEL; VARIANT CALLING;

TREES (MATHEMATICS);

CALIBRATION; CLASSIFICATION; DNA FLANKING REGION; EXOME; FILTRATION; INDEL MUTATION; NEXT GENERATION SEQUENCING; SIMULATION; COMPUTER SIMULATION; DNA SEQUENCE; GENETIC POLYMORPHISM; HIGH THROUGHPUT SEQUENCING; HUMAN; MUTATION; PROCEDURES; SOFTWARE; STANDARDS;

COMPUTER SIMULATION; EXOME; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA; SOFTWARE;

EID: 85016145775     PISSN: None     EISSN: 14712105     Source Type: Journal    
DOI: 10.1186/s12859-017-1537-8     Document Type: Article

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