Author

Melissa A. Wilk

HudsonAlpha Institute for Biotechnology

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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Bioinformatics· 1 Genomics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 1 Assay:imaging· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Brandon M. WilkiD· 2 shared Camille L. Birch· 2 shared Donna M. BrowniD· 2 shared Elizabeth A. WortheyiD· 2 shared James HoltiD· 2 shared Manavalan GajapathyiD· 2 shared Nadiya SosonkinaiD· 2 shared Undiagnosed Diseases Network· 2 shared

Activity by Year

2019-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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2 shared papersBioinformatics

Brandon M. WilkORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Retinal and Cortical Determinants of Cortical Magnification in Human Albinism

Erica N. Woertz, Melissa A. Wilk, Ethan J. Duwell, Jedidiah R. Mathis, Joseph Carroll, Edgar A. DeYoe

This study examines retinal and cortical factors affecting visual acuity in albinism, finding that cortical magnification in albinism is similar to controls despite reduced foveal cone density.

Journal of Vision · Jun 16, 2020Peer-reviewedNeuroscience

VarSight: Prioritizing Clinically Reported Variants with Binary Classification Algorithms

Undiagnosed Diseases Network, James Holt, Brandon M. Wilk, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Alexander Clayton Moss, Nadiya Sosonkina, Melissa A. Wilk, Julie A. Anderson, Jeremy M. Harris, Jacob M. Kelly, Fariba Shaterferdosian, Angelina E. Uno-Antonison, Arthur Weborg, Elizabeth A. Worthey

VarSight uses binary classification algorithms to prioritize clinically reported variants in rare disease patients, outperforming existing methods in identifying pathogenic variants.

BMC Bioinformatics · Oct 15, 2019Peer-reviewedBioinformatics

Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome Sequencing

James Holt, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Nadiya Sosonkina, Brandon M. Wilk, Melissa A. Wilk, Rebecca C. Spillmann, Nicholas Stong, Hane Lee, Alden Huang, Devon E. Bonner, Jennefer N. Kohler, Ellen F. Macnamara, Undiagnosed Diseases Network, , Elizabeth A. Worthey

This paper identifies pathogenic structural variants in rare disease patients using whole genome sequencing and reports their clinical relevance.

bioRxiv · May 15, 2019 · PreprintGenomics