Author

Alicia Brandt

University of North Carolina at Chapel HillORCID 0000-0001-5151-0842Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Bradford C. PowelliD· 3 shared Jonathan S. BergiD· 2 shared Neeta L. VoraiD· 2 shared Ann Katherine M. ForemaniD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Ben WeisburdiD· 1 shared Benjamin CurralliD· 1 shared Bernie DevliniD· 1 shared

Activity by Year

2020-2020 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 28 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Bradford C. PowellORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedAug 26, 2020

Genomic sequencing for newborn screening: Results of the NC NEXUS project

Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche…·Jonathan S. Berg

The paper evaluates exome sequencing in newborn screening, finding high diagnostic yield for metabolic disorders but limited actionable results for hearing loss and identifying carrier status variants.

129 citationstop 1%

humanwhole-exome sequencing

GenomicsbioRxivPreprintAug 12, 2020

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

Chelsea Lowther, Elise Valkanas, Jessica L. Giordano…·Michael E. Talkowski

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.

13 citations

humanwhole-exome sequencing

Genetic & Genomic MedicinemedRxivPreprintAug 4, 2020

Noninvasive prenatal exome sequencing inefficient for detecting single-gene disorders -- problems and possible solutions

Dayne L. Filer, Piotr A. Mieczkowski, Alicia Brandt…·Neeta L. Vora

This study shows exome sequencing of cell-free DNA is limited by technical issues and sampling challenges, making it unsuitable for noninvasive prenatal detection of single-gene disorders.

DOI 10.1101/2020.08.04.20168278

humanwhole-exome sequencing