Many rare genetic variants have unrecognized large-effect disruptions to exon recognition

Abstract excerpt

Any individual’s genome contains ∼4-5 million genetic variants that differ from reference, and understanding how these variants give rise to trait diversity and disease susceptibility is a central goal of human genetics 1 . A vast majority (96-99%) of an individual’s variants are common, though at a population level the overwhelming majority of variants are rare 2–5 . Because of their scarcity in an individual’s...

Topics

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• Exome
• Exome Sequencing
• Loss of Function Mutation
• Mutation, Missense
• Open Reading Frames
• Precision Medicine
• Proteins
• RNA Splice Sites

Identifiers and source

Literature Corpus work

5335fca8-6ddf-53c4-a315-a207a9905460

DOI

10.1101/199927