We performed WES using the SureSelect XT Human All Exon v5 or v6 kit (Agilent Technologies) or Twist Human Comprehensive Exome Panel (Twist Bioscience, San Francisco, CA, USA). DNA samples from only the brain or blood and brain samples were used. Germline variants were analyzed using GATK UnifiedGenotyper, and somatic variant calling was performed using Mutect2 and Varscan2. The threshold for VAF for somatic variants was set at 5%. In somatic analysis, we focused on common genes between unrelated samples or the genes in the list we made for targeted capture. The mean depth of coverage was 187 × (range, 55–300×) for brain tissues and 176 × (range, 76–288×) for blood or saliva.
Sureselect xt human all exon v5 or v6 kit
Manufactured by Agilent Technologies
Sourced in United States
The SureSelect XT Human All Exon v5 or v6 kit is a DNA library preparation kit designed for targeted enrichment of human exonic regions. The kit utilizes hybridization-based capture technology to selectively sequence protein-coding regions of the human genome.
Automatically generated - may contain errors
Lab products found in correlation
2 protocols using sureselect xt human all exon v5 or v6 kit
1
Whole-Exome Sequencing for Germline and Somatic Variant Analysis
2
Exome Sequencing and Variant Calling Protocol
Check if the same lab product or an alternative is used in the 5 most similar protocols
+ Expand
Exome sequencing and variant calling are described in the Supplementary Materials and Methods. Briefly, the exome was captured with the Agilent Sureselect XT Human All Exon V5 or V6 kit (Agilent, Santa Clara, CA). Exome libraries were sequenced on an HiSeq2500 or a NextSeq500 machine (Illumina, San Diego, CA) with 2 × 100 bp and 2 × 150 bp paired-end reads, respectively, at an average coverage of 100 × and with > 90% of the exome covered > 20 × . Sequence reads were aligned to the human reference genome GRCh37/hg19 with the Burrows-Wheeler Aligner version 0.7.5a. 22 Variants were called using Genome Analysis Toolkit (GATK) software. 23, 24 For two patients (F6P1 and F26P1), wholegenome sequencing (WGS) was performed to avoid timeconsuming capturing steps because of their severe clinical conditions and young age, as described previously 25 (Supplementary Materials and Methods).
A gene list of 310 genes was created based on the HPO term cardiomyopathy (HP:0001638; http://www.human-pheno type-ontology.org/), supplemented with genes not included
A gene list of 310 genes was created based on the HPO term cardiomyopathy (HP:0001638; http://www.human-pheno type-ontology.org/), supplemented with genes not included
About PubCompare
Our mission is to provide scientists with the largest repository of trustworthy protocols and intelligent analytical tools, thereby offering them extensive information to design robust protocols aimed at minimizing the risk of failures.
We believe that the most crucial aspect is to grant scientists access to a wide range of reliable sources and new useful tools that surpass human capabilities.
However, we trust in allowing scientists to determine how to construct their own protocols based on this information, as they are the experts in their field.
Ready to get started?
Sign up for free.
Registration takes 20 seconds.
Available from any computer
No download required
Revolutionizing how scientists
search and build protocols!