Author

Sheila Seal

Institute of Cancer Research

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· 2 Genomics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:variant calling· 4 Approach:experimental assay· 3 Assay:whole-genome sequencing· 3 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1

Frequent Co-Authors

Nazneen RahmaniD· 5 shared Shazia Mahamdallie· 5 shared Elise RuarkiD· 3 shared ANDREW P. FELLOWESiD· 2 shared Ann Strydom· 2 shared Brian H. ShirtsiD· 2 shared Catherine Huang· 2 shared Eric W. KleeiD· 2 shared

Activity by Year

2015-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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5 shared papersGenomics

Nazneen RahmanORCID

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5 papers

Recent·Most cited

One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

Stephen E. Lincoln, Tina M. Hambuch, Justin M. Zook, Sara L. Bristow, Kathryn E. Hatchell, Rebecca Truty, Michael I. Kennemer, Brian H. Shirts, ANDREW P. FELLOWES, Shimul Chowdhury, Eric W. Klee, Shazia Mahamdallie, Megan H. Cleveland, Peter M. Vallone, Yan Ding, , Robert Luke Nussbaum

The paper evaluates the detection of technically challenging variants in NGS workflows using synthetic specimens and clinical data from 450,000 patients, finding significant variability in detection rates.

Genetics in Medicine · May 18, 2021Peer-reviewedGenetic & Genomic Medicine

Resolving the Full Spectrum of Human Genome Variation using Linked-Reads

Patrick Marks, Sarah Garcia, Álvaro Martínez Barrio, Kamila Belhocine, Jorge Bernate, Rajiv Bharadwaj, Keith P. Bjornson, Claudia Catalanotti, Josh Delaney, Adrian N. Fehr, Ian T. Fiddes, Brendan D. Galvin, Haynes Heaton, Jill Herschleb, Christopher M. Hindson, , Deanna M. Church

This paper introduces Linked-Reads as a method to comprehensively analyze genome variation, showing it can detect both small and large variants and reconstruct haplotypes more effectively than short-read sequencing.

Genome Research · Apr 1, 2019Peer-reviewedGenomics

An interlaboratory study of complex variant detection

Stephen E. Lincoln, Justin M. Zook, Shimul Chowdhury, Shazia Mahamdallie, ANDREW P. FELLOWES, Eric W. Klee, Rebecca Truty, Catherine Huang, Farol L. Tomson, Megan H. Cleveland, Peter M. Vallone, Yan Ding, Sheila Seal, Wasanthi DeSilva, Russell K. Garlick, , Brian H. Shirts

This study evaluates synthetic specimens with challenging variants across 10 NGS workflows, finding limited variant detection consistency and highlighting bioinformatic limitations.

bioRxiv · Nov 23, 2017 · PreprintGenetics

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

Angela George, Daniel Riddell, Sheila Seal, Sabrina Talukdar, Shazia Mahamdallie, Elise Ruark, Victoria Cloke, Ingrid Slade, Zoe Kemp, Martin Gore, Ann Strydom, Susana Banerjee, Helen Hanson, Nazneen Rahman, Mainstreaming Cancer Genetics (MCG) Programme

This study implements a streamlined BRCA gene testing pathway for ovarian cancer patients, achieving high uptake and efficiency with significant cost savings and improved patient outcomes.

bioRxiv · Mar 16, 2016Genetics

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinic

Márton Münz, Elise Ruark, Anthony Renwick, Emma Ramsay, Matthew Clarke, Shazia Mahamdallie, Victoria Cloke, Sheila Seal, Ann Strydom, Gerton Lunter, Nazneen Rahman

This paper introduces CSN and CAVA, tools for standardized, rapid variant annotation of NGS data, showing high accuracy and clinical relevance in BRCA1/BRCA2 analysis.

bioRxiv · Mar 21, 2015Genomics