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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...

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

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

Published on: April 4, 2018

Genome sequencing as a diagnostic test

Gregory Costain¹, Ronald D Cohn², Stephen W Scherer²

¹Division of Clinical and Metabolic Genetics (Costain, Cohn), The Hospital for Sick Children; Department of Paediatrics (Costain, Cohn), University of Toronto; Genetics and Genome Biology (Costain, Cohn, Scherer), SickKids Research Institute; Department of Molecular Genetics (Costain, Cohn, Scherer), University of Toronto; The Centre for Applied Genomics (Scherer, Marshall), The Hospital for Sick Children; Department of Laboratory Medicine and Pathobiology (Marshall), University of Toronto; Genome Diagnostics (Marshall), Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ont. gregory.costain@sickkids.ca.

CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne

|October 26, 2021

Summary

No abstract available in PubMed .

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