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

Department of Dermatology

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

17 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
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 - 2011 Oct

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Dermatology
Cell Biology

Access to Document

10.1038/jid.2011.253

Cite this

@article{bc27dc3b58a640bd9fabd49a42050b8e,

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.",

author = "Lai-Cheong, \{Joey E.\} and McGrath, \{John A.\}",

year = "2011",

month = oct,

doi = "10.1038/jid.2011.253",

language = "English",

volume = "131",

pages = "1971--1973",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Elsevier BV",

number = "10",

}

TY - JOUR

T1 - Next-generation diagnostics for inherited skin disorders

AU - Lai-Cheong, Joey E.

AU - McGrath, John A.

PY - 2011/10

Y1 - 2011/10

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/80052828859

UR - https://www.scopus.com/pages/publications/80052828859#tab=citedBy

U2 - 10.1038/jid.2011.253

DO - 10.1038/jid.2011.253

M3 - Comment/debate

AN - SCOPUS:80052828859

SN - 0022-202X

VL - 131

SP - 1971

EP - 1973

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 10

ER -

Next-generation diagnostics for inherited skin disorders

Abstract

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Fingerprint

Cite this