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Basic Research Skills Seminar (19 Apr 2017)


Basic Research Skills Seminar

Centre for Genomic Sciences

Functional Annotation and Prioritization
of Whole Exome and
Whole Genome Sequencing Variants

Dr Mulin Li

19 Apr 2017 (Wed) 2:00-3:00pm

Seminar Room 2, G/F
The Hong Kong Jockey Club Building for Interdisciplinary Research
 5 Sassoon Road, Pokfulam, Hong Kong


As high throughput methods, such as whole genome genotyping arrays, whole exome sequencing (WES) and whole genome sequencing (WGS), have detected huge amounts of genetic variants associated with human diseases, function annotation and prediction of these variants is an indispensable step in understanding disease etiology. Large-scale functional genomics projects, such as The ENCODE Project and Roadmap Epigenomics Project, provide genome-wide profiling of functional elements across different human cell types and tissues. With the urgent demands for identification of disease-causal variants, comprehensive and easy to use annotation tool is highly in demand. In this talk, we review and discuss the variant annotation, functional prediction and prioritization methods across multiple biological domains. Furthermore, we will introduce a series of bioinformatics tools for annotating and prioritizing human genetic variants.

Other seminars in the series:

Analysis of ChIPseq Data by Ms Yiming Qin
17 May 2017 (Wed) 3:00-4:00pm

Pharmacogenetics by Dr Ching Lung Cheung
31 May 2017 (Wed) 3:00-4:00pm

Introduction to Python: The Multi-Purpose Programming Language by Mr Robert Porsch
14 Jun 2017 (Wed) 3:00-4:00pm


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