I-39: Exome Sequencing Reveals New Genes Involved in Human Infertility

I-39: Myoma in Infertility

Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient

Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polyd...

I-53: Genetics of Infertility: How to CloneHuman Genes Solely Involved in InfertilityPhenotype

An increased proportion of couples require a medical help to conceive and 1-3.6% of pregnancies in occidental countries are obtained thanks to a Assistance Reproduction For more than half of them the cause of these dysfunctions remains unknown and in vitro fertilization is often proposed as a universal answer to a complex problem. Most of the proposed treatments are often empirical and little h...

Computational prediction of miRNAs in Nipah virus genome reveals possible interaction with human genes involved in encephalitis

Current re-emergence of Nipah virus (NiV) in India caused 11 deaths so far and many patients were kept in quarantine. A thorough study of previous outbreaks occurred in Malaysia, Bangladesh and India represents cases with high rate of fatality due to acute encephalitis. Our work involves genome analysis of NiV for prediction of miRNAs and their targeted genes in human in order to understand enc...

carrier detection in a normal individual for 69 genes involved in familial cancer syndromes using whole exome sequencing

cancer, with a high rate of mortalities worldwide, pose a major threat to human health. although family history accounts for at least 5-10% of all cancers, it is conferred to be as a significant risk of developing cancer. recently, application of high speed and low cost high-throughput nucleotide sequencing technologies has provided an opportunity to assess cancer risk in at risk healthy indivi...

I-39: Exploring New Frontiers in Human Y Chromosome Proteome Project

The major goal of the Chromosome-Centric Human Proteome Project (C-HPP) is to systematically map the entire human proteome with the intent to enhance our understanding of human biology at the cellular level. However, this goal may be hindered by the lack of quality observations of given proteins due to absence of expression in a given tissue, very low abundance, and expression only in rare samp...