Article
Understanding the disease genome: gene essentiality and the interplay of selection, recombination and mutation.
Briefings in bioinformatics - 18 Jan 2019
Pengelly Reuben J, Vergara-Lope Alejandra, Alyousfi Dareen, Jabalameli M Reza, Collins Andrew
Abstract excerpt
Despite the identification of many genetic variants contributing to human disease (the 'disease genome'), establishing reliable molecular diagnoses remain challenging in many cases. The ability to sequence the genomes of patients has been transformative, but difficulty in interpretation of voluminous genetic variation often confounds recognition of underlying causal variants. There are numerous predictors of...
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