In the 'prevalence set', due to the absence of matched normal controls, rare germline SNVs were discarded using an in-house Southeast Asian normal exome dataset, including 523 exomes (sgSNPG).
Here we performed whole exome sequencing of two sets of matched normal and metastatic tumor DNAs.
Exome sequencing in 18 fibroids and matched normal myometria has implicated the gene encoding the mediator complex subunit 12 (MED12) in UL (Makinen et al. 2011).
As a part of this program, we performed integrative sequencing on 11 metastatic ER-positive breast cancer patients including whole-exome sequencing of the tumor and matched normal tissue, transcriptome sequencing and low-pass whole-genome sequencing, as needed.
Genomic DNA samples derived from these metastases underwent whole exome re-sequencing in parallel with their matched normal DNA.
Recently, the TCGA project performed exome sequencing for somatic mutations in tumor and matched normal breast tissue in addition to annotating germline variants in a select number of loci with a known predisposition for breast cancer [ 1].
We assessed ClinSeK using the targeted exome sequencing data from 1,049 pairs of tumor and matched normal samples [ 29].
ClinSeK was compared with other tools using the targeted exome sequencing data of 1,049 pairs of tumor and matched normal samples [ 29].
The whole exome data of the 18 lung tumors (approximately 70%to80%0% tumor content) and matched normal samples were captured using Agilent SureSelect 38 M kit and sequenced on an Illumina HiSeq 2000 platform as published [ 19].
Genomic DNAs from 48 stage I tumors, 48 stage III tumors and matched normal tissues were fragmented and libraries were constructed following the same method as the exome-capture experiment.
