Article

BOREALIS: an R/Bioconductor package to detect outlier methylation from bisulfite sequencing data

2022-12-20

Abstract excerpt

<h4>Background: </h4> Rare genetic disease studies have benefited from the era of high throughput sequencing. DNA sequencing results in genetic diagnosis of 18-40% of previously unsolved cases, while the incorporation of RNA-Seq analysis has more recently been shown to generate significant numbers of previously unattainable diagnoses. While DNA methylation remains less explored, multiple inborn diseases resulting...

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Literature Corpus work: dd19c69a-92f6-51cf-a47b-5bd7fd86f85e
DOI: 10.12688/f1000research.128354.1

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