Nuclease deficiencies alter plasma cell-free DNA methylationprofiles (Human)

The effects of DNASE1L3 or DNASE1 deficiency on cfDNA methylation was explored in plasma of mice deficient in these nucleases and in DNASE1L3-deficient humans. Compared to wildtype cfDNA, cfDNA in Dnase1l3-deficient mice was significantly hypomethylated, while cfDNA in Dnase1-deficient mice was hypermethylated. The cfDNA hypomethylation in Dnase1l3-deficient mice was due to increased fragmentation and representation from open chromatin regions (OCRs) and CpG islands (CGIs). These findings were absent in Dnase1-deficient mice.

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

1 Dataset 1 Publication

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Dataset ID	Description	Technology	Samples
EGAD00001007750	The dataset contains 2x75bp paired-end sequencing data in DNASE1L3-deficient human subjects. We performed bisulfite sequencing of plasma samples from three DNASE1L3-deficient subjects and one heterozygous parent to investigate how nuclease deficiencies alter plasma cell-free DNA methylation profiles.	Illumina HiSeq 1500 Illumina HiSeq 4000	7

Publications	Citations
Nuclease deficiencies alter plasma cell-free DNA methylation profiles. Han DSC, Ni M, Chan RWY, Wong DKL, Hiraki LT, Volpi S, Jiang P, Lui KO, Chan KCA, Chiu RWK, Lo YMD. Genome Res 31: 2021 2008-2021	6