Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update

There is a growing interest in standardizing gene-disease associations for the purpose of facilitating the proper classification of variants in the context of Mendelian diseases. One key line of evidence is the independent observation of pathogenic variants in unrelated individuals with similar phen...

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Main Authors: Sateesh Maddirevula, Hanan E. Shamseldin, Amy Sirr, Lama AlAbdi, Russell S. Lo, Nour Ewida, Mashael Al-Qahtani, Mais Hashem, Firdous Abdulwahab, Omar Aboyousef, Namik Kaya, Dorota Monies, May H. Salem, Naffaa Al Harbi, Hesham M. Aldhalaan, Hamad Alzaidan, Hadeel M. Almanea, Abrar K. Alsalamah, Fuad Al Mutairi, Samira Ismail, Ghada M. H. Abdel-Salam, Amal Alhashem, Ali Asery, Eissa Faqeih, Amal AlQassmi, Waleed Al-Hamoudi, Talal Algoufi, Mohammad Shagrani, Aimée M. Dudley, Fowzan S. Alkuraya
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-12-01
Series:Frontiers in Genetics
Subjects:
autozygosity
diabetes
yeast
founder mutation
disease-gene associations
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.580484/full

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https://www.frontiersin.org/articles/10.3389/fgene.2020.580484/full

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