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Molecular Phenotype of Constitutional TET2 Haploinsufficiency in Humans

In this study, we observed the effects of constitutional heterozygous TET2 loss on blood DNA methylation, chromatin activity and gene expression in carriers of truncating TET2 germline mutations. To provide additional context to findings in TET2 mutation carriers, we analysed DNA methylation in four DNMT3A germline mutation carriers and their age-matched controls.

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
EGAD00001004778 Illumina HiSeq 4000 8
EGAD00001004779 HiSeq X Ten 9
EGAD00001004780 Illumina HiSeq 4000 15
EGAD00001004781 Illumina HiSeq 2500 5
EGAD00001004782 Illumina HiSeq 2000 1
EGAD00001004783 Complete Genomics 1
EGAD00001004784 Illumina HiSeq 2000 15
EGAD00001004785 Illumina HiSeq 2000 Illumina HiSeq 2500 25
EGAD00010001671 Illumina HiSeq 2500 5
Publications Citations
Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.
Nat Commun 10: 2019 1252
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