Hi all, My samples have been sequenced with the Twist Exome 2.0 sequencing panel, and I want to assess how efficient the sequencing has been. …

Hi, I'm performing a WES analysis from Illumina. The specific kit used was *Illumina DNA Prep with Enrichment* (formerly known as *Nextera Flex for Enrichment*). …

Hello all, I am new to NGS analysis and still learning things. Currently i am trying to get bam files metrics. i used the gatk …

Hi, I need to perform SNV analysis in a cohort - for that I need to find "good" regions that are more or less covered …

Dear all, I've found a lot of information about different samples and sequencing platforms from 1000GP, however I have not found the list matching between …

edit: Thanks for Devon Ryan's help. I solved this problem. I am a green hand of bioinfomatics. I am trying to apply pybedtools and pysam …

Hello, I am working with targeted amplicon sequencing data for 200 samples! I want to calculate the average depth per amplicon? I tried bedtools coverage, …

Hi friends, Recently, we performed exome sequencing for 3 samples using Nextera sequencing machine. We used new kit for exome sequencing. So I am interested …

Recently, a new paper ([CopywriteR][1]) was published describing copy number alteration (CNA) profiling using targeted sequencing (e.g. whole-exome sequencing). The "revolution" here is that CNA …

<p>Hi,</p> <p>I want to calculate some aligment quality metrics from whole exome data (paired-end Illumina). </p> <p>I used the picard tool CollectAlignmentSummaryMetrics which provides me …