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Genome-wide array data and next generation sequencing unravel the etiology of urogenital malformations
Author(s) -
Michael Ludwig,
Heiko Reutter
Publication year - 2015
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.3233/pge-12033
Subject(s) - genitourinary system , biology , computational biology , gene , genome , dna sequencing , genetics , etiology , bioinformatics , evolutionary biology , medicine , pathology , anatomy
Development of the genitourinary tract requires spatiotemporal expression of a myriad of genes involved in various cascades and signaling events. To date, researchers have put great efforts into defining the etiology of these malformations. However, many aspects remain unsolved. This paper reviews the most recent progress in identifying causally related genes and novel loci assumed to harbor genes involved in the formation of urogenital malformations. These investigations have been considerately accelerated by the implementation of molecular karyotyping using array techniques and next generation sequencing strategies.

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