Enhancing Bioinformatics Approaches for Analysis of Exome Sequencing Data generated from GnRH Deficient Patients

• Research unit: COST
• Project number: C12.0106

Key words (English)

genetics; bioinformatics; GnRH deficiency; sequencing technologies

Research programs (English)

COST-Action BM1105 - GnRH deficiency: Elucidation of the neuroendocrine control of human reproduction

Short description (English)

See abstract

Further information (English)

Full name of research-institution/enterprise: Centre hospitalier universitaire vaudois CHUV Service d'endocrinologie, diabétologie et métabolisme EDM service, BH 19.701

Partners and International Organizations (English)

NL; DE; BE; EE; EL; IT; PT; ES; BG; FI; HU; LT; RO; SE; CY; FR; IE; MT; RS; CH; DK; IL; PL; SI; UK

Abstract (English)

Broadly, this project aims to investigate the genetics of human GnRH deficiency, a complex disease characterized by lack of puberty and infertility. This syndrome has a rich genetic and phenotypic heterogeneity and represents a unique investigative opportunity to understand the biology of genes controlling human reproduction and to develop novel diagnostic tools and targeted therapies for infertility and reproductive medicine. The recently awarded COST action aims to: 1) assemble a large cohort of well phenotyped GnRH deficient patients across Europe 2) perform exome sequencing in a large cohort of European GnRH deficient patients 3) enhance bioinformatics algorithms to identify, filter and prioritize variants generated from exome sequencing 4) find novel genes directly implicated in the disease, to broaden the knowledge of the neuroendocrine control of human reproduction 5) establish clinical guidelines for diagnostic and therapeutic purposes In this project, we will focus on the bioinformatics expertise required to analyze exome and likely whole genome sequencing data. These bioinformatics activities will help similar studies in other genetic disorders and will be disseminated around Europe via the COST network of investigators from the 28 countries participating in the Action.

References in databases (English)

Swiss Database: COST-DB of the State Secretariat for Education and Research Hallwylstrasse 4 CH-3003 Berne, Switzerland Tel. [phone] Swiss Project-Number: C12.0106