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2018•New England Journal of MedicineRequires access

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

David R. Adams, Christine M. Eng

Open publisher page 257 citations

Abstract

Interview with Dr. David Adams on the use of clinical next-generation sequencing to obtain a genetic diagnosis. (06:23)Download The technologies and chemistries underlying next-generation sequencing of DNA are evolving rapidly. This review describes the three main approaches to obtaining a genetic diagnosis through next-generation sequencing, their advantages, and their limitations.

About this research paper

What this paper is about

Interview with Dr. David Adams on the use of clinical next-generation sequencing to obtain a genetic diagnosis. (06:23)Download The technologies and chemistries underlying next-generation sequencing of DNA are evolving rapidly. This review describes the three main approaches to obtaining a genetic diagnosis through next-generation sequencing, their advantages, and their limitations.

Why it matters

OpenAlex reports 257 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

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Method / approach

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Available abstract

Interview with Dr. David Adams on the use of clinical next-generation sequencing to obtain a genetic diagnosis. (06:23)Download The technologies and chemistries underlying next-generation sequencing of DNA are evolving rapidly. This review describes the three main approaches to obtaining a genetic diagnosis through next-generation sequencing, their advantages, and their limitations.

Key concepts: DNA sequencing, Medicine, Genetic diagnosis, Computational biology, Genetics, Biology, DNA, Gene

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