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Exome sequencing in genetic disease: recent advances and considerations

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 dis...

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Detalhes bibliográficos
Publicado no:F1000Res
Main Authors: Ross, Jay P., Dion, Patrick A., Rouleau, Guy A.
Formato: Artigo
Idioma:Inglês
Publicado em: F1000 Research Limited 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7205110/
https://ncbi.nlm.nih.gov/pubmed/32431803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.19444.1
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