Next-generation sequencing for mutation detection in heritable skin diseases: the paradigm of pseudoxanthoma elasticum

The Journal of Investigative Dermatology
Andrew P SouthJouni Uitto

Abstract

Next-generation sequencing applied either to the entire genome or to a subset, such as a whole exome, has revolutionized the search for pathogenic mutations in heritable diseases, including genodermatoses. In this issue, Hosen et al. applied whole-exome sequencing to identify potential pathogenic mutations in four candidate genes associated with pseudoxanthoma elasticum, the prototype of ectopic mineralization disorders. The study highlights the advantages of this approach over traditional Sanger sequencing, including expedience and cost, but it also illustrates some of the challenges encountered in implementing this rapidly evolving technology.

References

Sep 20, 2005·Genome Research·Belinda GiardineAnton Nekrutenko
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Dec 10, 2009·Nature Reviews. Genetics·Michael L Metzker
Dec 25, 2009·The Journal of Investigative Dermatology·Jouni UittoQiujie Jiang
Sep 29, 2011·Nature Reviews. Genetics·Michael J BamshadJay Shendure
May 15, 2013·The American Journal of Pathology·Qiaoli Li, Jouni Uitto
May 16, 2013·The Journal of Investigative Dermatology·Jouni UittoSharon F Terry
Nov 28, 2013·Experimental Dermatology·Takuya TakeichiJohn A McGrath
Mar 22, 2014·Nature·Erika Check Hayden
Mar 26, 2014·The Journal of Investigative Dermatology·Andrew P SouthIrene M Leigh
Jun 11, 2014·BMC Genomics·Chandra Sekhar Reddy ChilamakuriLeonardo A Meza-Zepeda
Jun 26, 2014·Nature Biotechnology·Andrew H LaszloJens H Gundlach
Nov 11, 2014·Expert Opinion on Orphan Drugs·Jouni UittoSharon F Terry

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