Author

Marta Grzelak

University of CambridgeORCID 0000-0002-2653-2895Unclaimed 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:DNA methylation· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Carlos CaldasiD· 2 shared Stephen‐John SammutiD· 2 shared Suet‐Feung ChiniD· 2 shared Abdelhamid Boumertit· 1 shared Ángela SantonjaiD· 1 shared Elena ProvenzanoiD· 1 shared Emilio AlbaiD· 1 shared Emma J. BeddowesiD· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenomics

Carlos CaldasORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Next Generation-Targeted Amplicon Sequencing (NG-TAS): An optimised protocol and computational pipeline for cost-effective profiling of circulating tumour DNA

Meiling Gao, Maurizio Callari, Emma J. Beddowes, Stephen‐John Sammut, Marta Grzelak, Heather Biggs, Linda Ramball Jones, Abdelhamid Boumertit, Sabine C. Linn, Javier Cortés, Mafalda Oliveira, Richard D. Baird, Suet‐Feung Chin, Carlos Caldas

NG-TAS is a cost-effective method for profiling ctDNA mutations in cancer patients, showing consistent detection of mutations at >1% allele fraction.

Genome Medicine · Jan 4, 2019Peer-reviewedGenomics

Shallow whole genome sequencing for robust copy number profiling of formalin-fixed paraffin-embedded breast cancers

Suet‐Feung Chin, Ángela Santonja, Marta Grzelak, Soomin Ahn, Stephen‐John Sammut, Harry Clifford, Oscar M. Rueda, Michelle Pugh, Mae A. Goldgraben, Helen A. Bardwell, Eun Yoon Cho, Elena Provenzano, Federico Rojo, Emilio Alba, Carlos Caldas

This study demonstrates that shallow whole genome sequencing (sWGS) can robustly profile copy number alterations in FFPE breast cancer tissues, even with low-quality DNA.

Experimental and Molecular Pathology · Mar 30, 2018Peer-reviewedGenomics