Author

Elise Ruark

Institute of Cancer ResearchORCID 0000-0002-9373-4059Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Research Focus:variant calling· 3 Approach:experimental assay· 2 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Approach:deep learning· 1 Assay:DNA methylation· 1 Research Focus:genome assembly· 1

Frequent Co-Authors

Nazneen RahmaniD· 3 shared Shazia Mahamdallie· 3 shared Sheila Seal· 3 shared Ann Strydom· 2 shared Victoria Cloke· 2 shared Adam J. LoweiD· 1 shared Adrian N. Fehr· 1 shared Álvaro Martínez BarrioiD· 1 shared

Activity by Year

2015-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenomics

Nazneen RahmanORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

GenomicsGenome ResearchPeer-reviewedApr 1, 2019

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

Patrick Marks, Sarah Garcia, Álvaro Martínez Barrio…·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.

261 citations

humanwhole-genome sequencing

GeneticsbioRxivMar 16, 2016

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

Angela George, Daniel Riddell, Sheila Seal…·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.

DOI 10.1038/srep29506

humanDNA methylation

GenomicsbioRxivMar 21, 2015

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

Márton Münz, Elise Ruark, Anthony Renwick…·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.

DOI 10.1186/s13073-015-0195-6

humanwhole-exome sequencing