Next-generation diagnostics for inherited skin disorders

Joey E Lai-Cheong; John A McGrath

doi:10.1038/jid.2011.253

Next-generation diagnostics for inherited skin disorders

Joey E Lai-Cheong, John A McGrath

Dermatology

Research output: Contribution to journal › Comment/debate › peer-review

14 Citations (Scopus)

Abstract

Identifying genes and mutations in the monogenic inherited skin diseases is a challenging task. Discoveries are cherished but often gene-hunting efforts have gone unrewarded because technology has failed to keep pace with investigators' enthusiasm and clinical resources. But times are changing. The recent arrival of next-generation sequencing has transformed what can now be achieved.

Original language	English
Article number	N/A
Pages (from-to)	1971-1973
Number of pages	3
Journal	Journal of Investigative Dermatology
Volume	131
Issue number	10
DOIs	https://doi.org/10.1038/jid.2011.253
Publication status	Published - Oct 2011

Keywords

Albinism, Oculocutaneous
Antigens, Neoplasm
Female
Gene Expression Regulation
Glucose-6-Phosphatase
Humans
Membrane Transport Proteins
Neutropenia
Sequence Analysis, DNA

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10.1038/jid.2011.253

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title = "Next-generation diagnostics for inherited skin disorders",

abstract = "Identifying genes and mutations in the monogenic inherited skin diseases is a challenging task. Discoveries are cherished but often gene-hunting efforts have gone unrewarded because technology has failed to keep pace with investigators' enthusiasm and clinical resources. But times are changing. The recent arrival of next-generation sequencing has transformed what can now be achieved.",

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KW - Albinism, Oculocutaneous

KW - Antigens, Neoplasm

KW - Female

KW - Gene Expression Regulation

KW - Glucose-6-Phosphatase

KW - Humans

KW - Membrane Transport Proteins

KW - Neutropenia

KW - Sequence Analysis, DNA

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DO - 10.1038/jid.2011.253

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Next-generation diagnostics for inherited skin disorders

Abstract

Keywords

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