Author

Susan D. Richman

St James's University HospitalORCID 0000-0003-3993-5041Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:software / tool· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Andrew BlakeiD· 1 shared Andrew David BeggsiD· 1 shared Anine Larsen OttestadiD· 1 shared Bjørn Henning GrønbergiD· 1 shared Celina WhalleyiD· 1 shared Daniel BottomleyiD· 1 shared Enric DomingoiD· 1 shared Guoliang Fu· 1 shared

Activity by Year

2021-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrew BlakeORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineEpigenomesPeer-reviewedFeb 19, 2021

Ultra-low DNA input into whole genome methylation assays and detection of oncogenic methylation & copy number variants in circulating tumour DNA

Celina Whalley, Karl F.B. Payne, Enric Domingo…·Andrew David Beggs

This study demonstrates that the Illumina Infinium HD methylation assay can reliably detect methylation and copy number variants in low-input DNA samples, including circulating tumour DNA.

13 citations

humanDNA methylation

𝕏 PostBluesky

GenomicsScientific ReportsPeer-reviewedFeb 4, 2021

Adaptor Template Oligo-Mediated Sequencing (ATOM-Seq): A versatile and ultra-sensitive UMI-based NGS library preparation technology, for use with cfDNA and cfRNA.

Thomas L. Dunwell, Simon C. Dailey, Anine Larsen Ottestad…·Guoliang Fu

ATOM-Seq is a new NGS library preparation method that improves sensitivity and reduces errors in detecting low-frequency mutations in cfDNA and cfRNA.

10 citations

whole-genome sequencingwhole-exome sequencing

𝕏 PostBluesky