Exome Sequencing for Cancer and LFS/LFL

Germline exome sequencing for LFS/LFL cases was carried out using Nextera rapid capture kit (Illumina) and sequenced on Hiseq2000 following manufacturer’s protocol. Commercial multi-gene panel which included a minimum of 25 genes recommended by American College of Medical Genetics and Genomics also used the Nextera rapid capture kit (Illumina) and sequencing is carried out using standard v2 kit on Illumina MiSeq. Exome for the oral cancer tissues to detect somatic mutations was captured using TruSeq exome enrichment kit (Illumina) and sequenced on Roche as reported previously^{13 (link)}. The Nextera rapid capture kits is based on the principle of hybrid capture.

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Haque M.M., Kowtal P, & Sarin R. (2018). Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts. Scientific Reports, 8, 11705.

Publication 2018

Nextera rapid capture kit TruSeq exome enrichment kit

A genes Exome Germline Hybrid Multi gene Mutations Oral cancer Somatic Tissues

Corresponding Organization :

Other organizations : Advanced Centre for Treatment, Research and Education in Cancer, Tata Memorial Hospital

Top 5 similar protocols

Variable analysis

independent variables

Nextera rapid capture kit (Illumina)
TruSeq exome enrichment kit (Illumina)

dependent variables

Germline exome sequencing for LFS/LFL cases
Commercial multi-gene panel sequencing
Exome sequencing for oral cancer tissues

control variables

Manufacturer's protocol for Nextera rapid capture kit (Illumina)
Standard v2 kit on Illumina MiSeq for commercial multi-gene panel sequencing
Roche platform as reported previously for exome sequencing of oral cancer tissues

positive controls

Not explicitly mentioned

negative controls

Not explicitly mentioned

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