Next generation sequencing in research and diagnostics of ocular birth defects

Molecular Genetics and Metabolism
Gordana RacaLisa A Schimmenti


Sequence capture enrichment (SCE) strategies and massively parallel next generation sequencing (NGS) are expected to increase the rate of gene discovery for genetically heterogeneous hereditary diseases, but at present, there are very few examples of successful application of these technologic advances in translational research and clinical testing. Our study assessed whether array based target enrichment followed by re-sequencing on the Roche Genome Sequencer FLX (GS FLX) system could be used for novel mutation identification in more than 1000 exons representing 100 candidate genes for ocular birth defects, and as a control, whether these methods could detect two known mutations in the PAX2 gene. We assayed two samples with heterozygous sequence changes in PAX2 that were previously identified by conventional Sanger sequencing. These changes were a c.527G>C (S176T) substitution and a single basepair deletion c.77delG. The nucleotide substitution c.527G>C was easily identified by NGS. A deletion of one base in a long polyG stretch (c.77delG) was not registered initially by the GS Reference Mapper, but was detected in repeated analysis using two different software packages. Different approaches were evaluated for distinguishing f...Continue Reading


Aug 14, 2010·Human Molecular Genetics·Jamie K Teer, James C Mullikin
Sep 18, 2010·Human Molecular Genetics·Sarah B NgJay Shendure
Aug 11, 2011·Bioinformatics·Jarupon Fah SathirapongsasutiS F Nelson
Sep 8, 2011·European Journal of Human Genetics : EJHG·Rosangela ArtusoMirella Bruttini
Jan 21, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Frauke CoppietersElfride De Baere
Nov 5, 2013·The Journal of Molecular Diagnostics : JMD·Valeria D'ArgenioFrancesco Salvatore
Aug 26, 2014·Ophthalmology·Rachel L GillespieI Christopher Lloyd
Oct 21, 2017·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Grit MutzbauerEva Geissinger
Jan 29, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jonathan S BergMaimoona A Zariwala

Related Concepts

Repetitive Region
Enzymes, antithrombotic
Pathogenic Organism
Candidate Disease Gene
Gene Deletion Abnormality
Eye Development

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.


Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.