HIGHLIGHTS
- who: David J. Barnes from the of germline (blood) DNA, reads from Fastq files were mapped to the reference human genome (hg19/b37) with the Burrows-Wheeler Aligner (BWA) package, version, .12. Local realignment of the mapped reads around potential insertion/deletion (indel) sites was carried out with the Genome Analysis Tool Kit, version, ., (GATK, Broad Institute). Duplicate reads were marked using Picard, version, .3., (Broad Institute). Base quality scores were recalibrated using GATK`s Base recalibration tool and variants (SNVs and indels) were called using the GATK Haplotype Caller. Deleterious SNVs were identified using the Variant . . .
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