DAC

ICR - Genetic Susceptibility Research (ICR-GSR) Details and application form can be accessed via:www.icr.ac.uk/genetic-resources

Dac ID Contact Person Email Access Information
EGAC00001000235 Nazneen Rahman rahmanlab [at] icr [dot] ac [dot] uk No additional information is available

This DAC controls 4 datasets:

Dataset ID Description Technology Samples
EGAD00001001003 Exome sequencing of lymphocyte DNA from 12 affected individuals from six unrelated, non-syndromic Wilms tumor families. Illumina HiSeq 2000; 12
EGAD00001001021 Exome sequencing of 1000 samples from the UK 1958 Birth Cohort. DNA library preps prepared with Illumina TruSeq sample preparation kit. The captured DNA libraries were PCR amplified using the supplied paired-end PCR primers. Sequencing was performed with an Illumina HiSeq2000 (SBS Kit v3, one pool per lane) generating 2x101-bp reads. Illumina HiSeq 2500; 1000
EGAD00001001462 Exome sequencing of 142 samples with corresponding Sanger sequencing results for 409 variants and 321 negative sites. DNA library preps prepared with Illumina TruSeq sample preparation kit. The captured DNA libraries were PCR amplified using the supplied paired-end PCR primers. Sequencing was performed with an Illumina HiSeq2000 (SBS Kit v3, one pool per lane) generating 2x101-bp reads. Illumina HiSeq 2000;, Illumina HiSeq 2500; 142
EGAD00001003335 A resource for assessment of exon CNV calling methods in targeted NGS data, we here present the ICR96 exon CNV validation series. The dataset includes high-quality sequencing data from a targeted NGS assay (the TruSight Cancer Panel) together with Multiplex Ligation-dependent Probe Amplification (MLPA) results for 96 independent samples. 66 samples contain at least one validated exon CNV and 30 samples have validated negative results for exon CNVs in 26 genes. The dataset includes 46 exon CNVs in BRCA1, BRCA2, TP53, MLH1, MSH2, MSH6, PMS2, EPCAM and PTEN, giving excellent representation of the cancer predisposition genes most frequently tested in clinical practice. Moreover, the validated exon CNVs include 25 single exon CNVs the most difficult exon CNV to detect. Illumina HiSeq 2500;ILLUMINA 96