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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver

Vi Goh1, Daniel Helbling, Vincent Biank

  • 1Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53221, USA.

Journal of Pediatric Gastroenterology and Nutrition
|June 18, 2011
PubMed
Abstract

No abstract available in PubMed .

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Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.