The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK) | Zendy

Erin Zampaglione | Zendy; Matthew Maher | Zendy; Emily Place | Zendy; Naomi E. Wagner | Zendy; Stephanie DiTroia | Zendy; Katherine R. Chao | Zendy; Eleina England | Zendy; Broad CMG | Zendy; Andrew J. Catomeris | Zendy; Sherwin Nassiri | Zendy; Seraphim Himes | Zendy; Joey Pagliarulo | Zendy; Charles Ferguson | Zendy; Eglé Galdikaité-Braziené | Zendy; Brian Cole | Zendy; Eric A. Pierce | Zendy; Kinga M. Bujakowska | Zendy

Open Access

The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)

Author(s) -

Erin Zampaglione,

Matthew Maher,

Emily Place,

Naomi E. Wagner,

Stephanie DiTroia,

Katherine R. Chao,

Eleina England,

Broad CMG,

Andrew J. Catomeris,

Sherwin Nassiri,

Seraphim Himes,

Joey Pagliarulo,

Charles Ferguson,

Eglé Galdikaité-Braziené,

Brian Cole,

Eric A. Pierce,

Kinga M. Bujakowska

Publication year - 2021

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1016/j.gim.2021.09.015

Subject(s) - mendelian inheritance , cohort , retinal degeneration , macular degeneration , genetics , bioinformatics , retinal , biology , degeneration (medical) , medicine , computational biology , gene , pathology , ophthalmology

In Mendelian disease diagnosis, variant analysis is a repetitive, error-prone, and time consuming process. To address this, we have developed the Mendelian Analysis Toolkit (MATK), a configurable, automated variant ranking program.

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