Author

Anna Maria Supernat

University of CambridgeORCID 0000-0002-3113-0540Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Anna PiskorziD· 1 shared Charles E. MassieiD· 1 shared Christine ParkinsoniD· 1 shared Christopher G. SmithiD· 1 shared Davina Gillian GaleiD· 1 shared Dineika ChandranandaiD· 1 shared Elizabeth K. MooreiD· 1 shared Florent C. MouliereiD· 1 shared

Activity by Year

2017-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Anna PiskorzORCID

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2 papers

Recent·Most cited

Comparison of three variant callers for human whole genome sequencing

Anna Maria Supernat, Oskar Valdimar Vidarsson, Vidar Martin Steen, Tomasz Stokowy

The paper compares three variant callers for human whole genome sequencing and finds DeepVariant outperforms others in indel calling.

Scientific Reports · Dec 10, 2018Peer-reviewedGenomics

Selecting Short DNA Fragments In Plasma Improves Detection Of Circulating Tumour DNA

Florent C. Mouliere, Anna Piskorz, Dineika Chandrananda, Elizabeth K. Moore, James Morris, Christopher G. Smith, Teodora Goranova, Katrin Heider, Richard James Mair, Anna Maria Supernat, Ioannis Gounaris, Susana R�os, Jonathan C. M. Wan, Mercedes Jimenez‐Liñan, Davina Gillian Gale, , Nitzan Rosenfeld

The paper shows that selecting short DNA fragments in plasma improves the detection of circulating tumour DNA by enriching mutated DNA, enabling identification of copy number alterations previously undetected.

bioRxiv · May 5, 2017 · PreprintGenomics