Author

Erika Apel

McMaster UniversityORCID 0009-0000-6491-1696Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ava Bizjak· 1 shared Chau V.K. Pham· 1 shared Ethan J. Schmidt· 1 shared Farida S.A. Abdelmalek· 1 shared Kathleen E. HoulahaniD· 1 shared Tracy Hua· 1 shared

Activity by Year

2026-2026 · peak 1/yr

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6 top collaborators · 15 mutual co-author links

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1 shared paperBioinformatics

Ava Bizjak

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1 paper

Recent·Most cited

BioinformaticsbioRxivPreprintApr 1, 2026

The human pangenome reference reduces ancestry-related biases in somatic mutation detection

Chau V.K. Pham, Farida S.A. Abdelmalek, Tracy Hua…·Kathleen E. Houlahan

This study benchmarks somatic mutation detection using the human pangenome reference and finds improved accuracy, especially in East Asian individuals.

DOI 10.64898/2026.03.30.715289

humanwhole-exome sequencing

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