Author

Eric E. Roller

Illumina (United States)

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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Genomics· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Organism:human· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1

Frequent Co-Authors

Michael A. EberleiD· 2 shared Sergii Ivakhno· 2 shared Aditi Chawla· 1 shared Alicia ScocchiaiD· 1 shared Alison J. CoffeyiD· 1 shared Alka MalhotraiD· 1 shared Amirah Khouzam· 1 shared Andrew M. GrossiD· 1 shared

Activity by Year

2017-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenomics

Michael A. EberleORCID

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Author profile →

3 papers

Recent·Most cited

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

Sairam Behera, Jonathan R. Belyeu, Xiao Chen, Luis F. Paulin, Ngoc Quynh Nguyen, Emma Newman, Medhat Mahmoud, Vipin K. Menon, Qibin Qi, Parag H. Joshi, Santica M. Marcovina, Massimiliano Rossi, Eric E. Roller, James Han, Vitor Onuchic, , Fritz Joachim Sedlazeck

The paper introduces a CN caller for KIV-2 repeats using short reads, showing high accuracy and demonstrating its correlation with Lp(a) levels and population-specific CN distributions.

BMC Medical Genomics · Oct 24, 2024Peer-reviewedGenomics

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

Andrew M. Gross, Subramanian S. Ajay, Vani Rajan, Carolyn M. Brown, Krista K. Bluske, Nicole C. Burns, Aditi Chawla, Alison J. Coffey, Alka Malhotra, Alicia Scocchia, Erin Thorpe, Natasa Dzidic, Karine Hovanes, Trilochan Sahoo, Egor Dolzhenko, , Ryan J. Taft

This study evaluates copy number variant detection in clinical whole genome sequencing, finding it as sensitive as microarrays with additional variants, and identifies clinically significant CNVs in 15% of cases.

Genetics in Medicine · Oct 3, 2018Peer-reviewedGenomics

Canvas SPW: Calling De Novo Copy Number Variants In Pedigrees

Sergii Ivakhno, Eric E. Roller, Camilla Colombo, Philip M. R. Tedder, Anthony J. Cox

Canvas SPW identifies inherited and de novo copy number variants in pedigree sequencing data by supporting various family structures and providing automated scoring and filtering options.

Bioinformatics · Sep 26, 2017Peer-reviewedBioinformatics