The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)-Reference-Cited by-同舟云学术

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

Published:2022-02 Issue:2 Volume:24 Page:332-343
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical)

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