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Omics score: 4

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

ABSTRACT: 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.

PROVIDER: EGAS00001000971 | EGA |

REPOSITORIES: EGA

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Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Loveday Chey C Tatton-Brown Katrina K Clarke Matthew M Westwood Isaac I Renwick Anthony A Ramsay Emma E Nemeth Andrea A Campbell Jennifer J Joss Shelagh S Gardner McKinlay M Zachariou Anna A Elliott Anna A Ruark Elise E van Montfort Rob R Rahman Nazneen N

Human molecular genetics 20150513 17

Overgrowth syndromes comprise a group of heterogeneous disorders characterised by excessive growth parameters, often in association with intellectual disability. To identify new causes of human overgrowth, we have been undertaking trio-based exome sequencing studies in overgrowth patients and their unaffected parents. Prioritisation of functionally relevant genes with multiple unique de novo mutations revealed four mutations in protein phosphatase 2A (PP2A) regulatory subunit B family genes prot ...[more]

PMID: 25972378

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