Author

Katya Mokretar

The Royal Free Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Anthony H.V. SchapiraiD· 2 shared Christos ProukakisiD· 2 shared Aimée DonaldiD· 1 shared Alan Michael PittmaniD· 1 shared Ayesha EjaziD· 1 shared Aynur Soenmez· 1 shared Colin D. Grace· 1 shared Derralynn A. HughesiD· 1 shared

Activity by Year

2017-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetics

Anthony H.V. SchapiraORCID

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2 papers

Recent·Most cited

Detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

Melissa Leija‐Salazar, Fritz Joachim Sedlazeck, Marco Toffoli, Stephen Mullin, Katya Mokretar, Maria Athanasopoulou, Aimée Donald, Reena Sharma, Derralynn A. Hughes, Anthony H.V. Schapira, Christos Proukakis

The paper validates the use of Oxford Nanopore MinION for detecting GBA mutations, including missense variants and deletions, with accurate phasing and intronic analysis.

Molecular Genetics & Genomic Medicine · Jan 13, 2019Peer-reviewedGenetics

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation

Elizabeth P. Nacheva, Katya Mokretar, Aynur Soenmez, Alan Michael Pittman, Colin D. Grace, Roberto Valli, Ayesha Ejaz, Selina Vattathil, Emanuela Maserati, Henry Houlden, Jan‐Willem Taanman, Anthony H.V. Schapira, Christos Proukakis

The paper shows DNA isolation methods affect array CGH, ddPCR, and whole genome sequencing results in human brain tissue, with protocol-dependent biases in GC coverage and mtDNA copy number.

PLoS ONE · Jul 6, 2017Peer-reviewedGenomics