Author

Adele Pretorius

University of Cape TownORCID 0000-0001-8078-5853Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Abebaw FekaduiD· 1 shared Alicia R. MartiniD· 1 shared Amanda B Bradway· 1 shared Ana Maria OlivaresiD· 1 shared Anne StevensoniD· 1 shared Benjamin B. ChuiD· 1 shared Benjamin M. NealeiD· 1 shared Bizu GelayeiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Abebaw FekaduORCID

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1 paper

Recent·Most cited

GenomicsbioRxivPreprintSep 6, 2024

A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner

Toni A. Boltz, Benjamin B. Chu, Calwing Liao…·Alicia R. Martin

The paper introduces BGE, a sequencing method that combines low-pass whole genome and deep whole exome data, showing high accuracy and cost-effectiveness for genetic variant discovery.

12 citations

humanwhole-genome sequencing

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