Index, Sort, Remove duplicate PCR (Rmdup) 1. .seq -> fastq 2. Illumina score -> Phred score 1. cleaned bam file 2. quality control, get statistics, mapped, unmapped, etc. 1. SNVs in VCFs 2. structural variants 3. copy number changes, etc. Aligner (soap2, bwa, bowtie, etc.) from Jui-Tse Hsu Illumina Exome sequence reads Aligned reads Aligned reads! (sam file) Aligned reads! (bam file) Useful reads data Call variants Visualization
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