Article

Exome sequencing in genetic disease: recent advances and considerations

2020-05-06

Abstract excerpt

Over the past decade, exome sequencing (ES) has allowed significant advancements to the field of disease research. By targeting the protein-coding regions of the genome, ES combines the depth of knowledge on protein-altering variants with high-throughput data generation and ease of analysis. New discoveries continue to be made using ES, and medical science has benefitted both theoretically and clinically from its...

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Literature Corpus work: fe77f1a7-7380-5c9c-824c-9be7b004ca91
DOI: 10.12688/f1000research.19444.1

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