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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 ( 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.

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 Illumina HiSeq 2500 1000
Publications Citations
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Hum Mol Genet 24: 2015 4775-4779
The ICR1000 UK exome series: a resource of gene variation in an outbred population.
F1000Res 4: 2015 883
Correspondence: SEMA4A variation and risk of colorectal cancer.
Nat Commun 7: 2016 10611
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Nat Commun 7: 2016 11883
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
Fam Cancer 15: 2016 593-599
Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.
Nat Commun 7: 2016 13840
Search for rare protein altering variants influencing susceptibility to multiple myeloma.
Oncotarget 8: 2017 36203-36210
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription.
Cell Metab 31: 2020 1107-1119.e12
Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors.
Cancer Genet 248-249: 2020 49-56
Chromosomal instability by mutations in the novel minor spliceosome component CENATAC.
EMBO J 40: 2021 e106536
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Eur J Hum Genet 31: 2023 953-961