Exome sequencing of 1000 population control samples from the UK 1958 birth cohort

Exome sequencing from 1,000 UK population samples (the ICR1000 Exome series), using samples from the 1958 Birth Cohort Collection, a population-based collection of all individuals born in the UK in one week in 1958 (http://www.cls.ioe.ac.uk). DNA libraries were prepared from genomic DNA using the Illumina TruSeq sample preparation kit. DNA was fragmented using Covaris technology and the libraries were prepared without gel size selection. Target enrichment was performed in pools of six libraries using the Illumina TruSeq Exome Enrichment kit. The captured DNA libraries were PCR amplified using the supplied paired-end PCR primers. Sequencing was performed with an Illumina HiSeq2000 (v3 flow cell, one pool per lane) generating 2x100-bp reads.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 11 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
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

Publications	Citations
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R, Childhood Overgrowth Collaboration, Rahman N. Hum Mol Genet 24: 2015 4775-4779	46
The ICR1000 UK exome series: a resource of gene variation in an outbred population. Ruark E, Münz M, Renwick A, Clarke M, Ramsay E, Hanks S, Mahamdallie S, Elliott A, Seal S, Strydom A, Gerton L, Rahman N. F1000Res 4: 2015 883	15
Correspondence: SEMA4A variation and risk of colorectal cancer. Kinnersley B, Chubb D, Dobbins SE, Frampton M, Buch S, Timofeeva MN, Castellví-Bel S, Farrington SM, Forsti A, Hampe J, Hemminki K, Hofstra RM, Northwood E, Palles C, Pinheiro M, Ruiz-Ponte C, Schafmayer C, Teixeira MR, Westers H, van Wezel T, Timothy Bishop D, Tomlinson I, Dunlop MG, Houlston RS. Nat Commun 7: 2016 10611	3
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. Chubb D, Broderick P, Dobbins SE, Frampton M, Kinnersley B, Penegar S, Price A, Ma YP, Sherborne AL, Palles C, Timofeeva MN, Bishop DT, Dunlop MG, Tomlinson I, Houlston RS. Nat Commun 7: 2016 11883	93
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. Dobbins SE, Broderick P, Chubb D, Kinnersley B, Sherborne AL, Houlston RS. Fam Cancer 15: 2016 593-599	7
Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility. Litchfield K, Levy M, Dudakia D, Proszek P, Shipley C, Basten S, Rapley E, Bishop DT, Reid A, Huddart R, Broderick P, Castro DG, O'Connor S, Giles RH, Houlston RS, Turnbull C. Nat Commun 7: 2016 13840	27
Search for rare protein altering variants influencing susceptibility to multiple myeloma. Scales M, Chubb D, Dobbins SE, Johnson DC, Li N, Sternberg MJ, Weinhold N, Stein C, Jackson G, Davies FE, Walker BA, Wardell CP, Houlston RS, Morgan GJ. Oncotarget 8: 2017 36203-36210	8
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription. Marenne G, Hendricks AE, Perdikari A, Bounds R, Payne F, Keogh JM, Lelliott CJ, Henning E, Pathan S, Ashford S, Bochukova EG, Mistry V, Daly A, Hayward C, INTERVAL, UK10K Consortium, Wareham NJ, O'Rahilly S, Langenberg C, Wheeler E, Zeggini E, Farooqi IS, Barroso I. Cell Metab 31: 2020 1107-1119.e12	29
Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors. Vasta LM, McMaster ML, Harney LA, Ling A, Kim J, Harris AK, Carr AG, Damrauer SM, Rader DJ, Kember RL, Kanetsky PA, Nathanson KL, Pyle LC, Greene MH, Schultz KA, Stewart DR, Regeneron Genetics Center (RGC) Research Team. Cancer Genet 248-249: 2020 49-56	0
Chromosomal instability by mutations in the novel minor spliceosome component CENATAC. de Wolf B, Oghabian A, Akinyi MV, Hanks S, Tromer EC, van Hooff JJE, van Voorthuijsen L, van Rooijen LE, Verbeeren J, Uijttewaal ECH, Baltissen MPA, Yost S, Piloquet P, Vermeulen M, Snel B, Isidor B, Rahman N, Frilander MJ, Kops GJPL. EMBO J 40: 2021 e106536	19
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies. Vintschger E, Kraemer D, Joset P, Horn AHC, Rauch A, Sticht H, Bachmann-Gagescu R. Eur J Hum Genet 31: 2023 953-961	0