Associate Professor Yuval Itan - Mt Sinai School of Medicine

Associate Professor Yuval Itan - Mt Sinai School of Medicine

Location: 
Seminar Room 2
Start Time: 
Wed, 04/12/2019 - 10:00am
End Time: 
Wed, 04/12/2019 - 11:00am

​Estimating the functional impact of human genetic variants

​Special seminar hosted by Dr Vanessa Bryant

Understanding the functional consequence of mutations and detecting novel disease-causing genes in next generation sequencing data are key components in genomic medicine. While next generation sequencing is becoming a standard approach, it is still challenging to identify the causative mutations in patients and to understand the functional consequence of mutations. We developed computational methods to address these issues, including: (1) the human gene connectome, for prioritizing candidate genes; (2) the gene damage index, to remove highly polymorphic false positive genes; (3) the mutation significance cutoff, applying gene-level cutoffs to methods such as CADD; and (4) a blacklist of non-pathogenic variants that are common in NGS data of patients but absent from public databases. Our ongoing projects in functional effect predictions and novel genes and mutations discovery include: (1) computationally differentiating gain-of-function from loss-of-function mutations; (2) a deep learning approach to detect pathogenic mutations by considering the patient’s phenotype; and (3) an inflammatory bowel disease cases-controls study for identifying rare and high impact mutations underlying the disease.
 
Yuval Itan is an Assistant Professor at the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai. A/Prof Itan is performing in-silico cutting-edge research to identify variants that confer susceptibility to genetic diseases in high-throughput genomic and proteomic data, including the development of novel machine learning and other computational methods for this purpose.
 
A/Prof Itan will be visiting Melbourne in December 2019 as an Expert-in-Residence with the Melbourne Genomics Immunology Clinical Flagship.