Rare-disease genetics in the era of next-generation sequencing: discovery to translation

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Updated: May 8, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Kym M Boycott1, Megan R Vanstone, Dennis E Bulman

  • 1Department of Pediatrics, University of Ottawa and Children's Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, Ontario K1H 8L1, Canada.

Nature Reviews. Genetics
|September 4, 2013
PubMed

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Next-generation Sequencing03:00

Next-generation Sequencing

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Pharmacogenomics: Identification of New Drug Targets

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Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Translation

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Genomics

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