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Home > Neuroendocrine Control of Reproduction > Organization > Genetics/Bioinformatics Working Group

WORKING GROUP 2:  GENETICS AND BIOINFORMATICS


The focus of Genetics and Bioinformatics Working Group (WG2) is to bring together leading European experts in these areas to study the genetics causes of GnRH Deficiency.

Specific Aims

  • Create a web-based database for rare sequence variants

  • Provide expertise for new genetic technologies including whole-exome sequencing and detection of copy number variation

  • Facilitate access of network investigators to advanced genetic research platforms

  • Enable researchers to partner at will to jointly investigate select families with unique phenotypic features and/or larger patient cohorts

  • Identify the gene(s) mutated in each patient and contribute this information to the database

  • Elucidate the genotype-phenotype correlations together with members of the Clinical Working Group (WG1)

  • Sharing data from exome sequencing on de-identified GnRH deficient patients

  • Establish guidelines for sharing negative results on the website, to prevent duplication of efforts, and facilitate optimal use of investigators' resources