Truseq dna sample preparation kit version 2

Genomic DNA samples for exome sequencing were prepared from peripheral blood using the Qiagen DNA Easy kit. Exome sequence libraries were prepared using an Illumina TruSeq DNA Sample Preparation Kit version 2. Paired-end sequencing was performed on the Illumina HiSeq2000 instrument. BWA software was used to align the sequence reads to the Human Reference Genome Build hg19. Picard was used to identify PCR duplicates. GATK was used to realign the sequence reads around microindels to produce a better alignment and to recalibrate the base qualities to obtain more accurate quality scores. GATK Unified Genotyper and SAMtools were then used to identify SNVs and Indels. Mutect2 was used for somatic calling. ANNOVAR was used for annotation and VCF files were generated.

Genomic DNA samples for exome sequencing were prepared from peripheral blood using the Qiagen DNA Easy kit. Exome sequence libraries were prepared using an Illumina TruSeq DNA Sample Preparation Kit version 2. Paired-end sequencing was performed on the Illumina HiSeq2000 instrument. BWA software was used to align the sequence reads to the Human Reference Genome Build hg19. Picard was used to identify PCR duplicates. GATK was used to realign the sequence reads around microindels to produce a better alignment and to recalibrate the base qualities to obtain more accurate quality scores. GATK Unified Genotyper and SAMtools were then used to identify SNVs and Indels. Mutect2 was used for somatic calling. ANNOVAR was used for annotation and VCF files were generated.