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Joint Workshop ( 9-10 Jan 2014)

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Joint Workshop

Genomics Strategic Research Theme
Centre for Genomic Sciences
Department of Psychiatry

Next Generation Sequencing (NGS) Data Analysis
for Genetic Studies of Rare Diseases

9 - 10 January 2014

Computer Room, Yu Chun Keung Medical Library
Faculty of Medicine Building, 21 Sassoon Road, Pokfulam, Hong Kong
 

The workshop will focus on cutting-edge analysis tools for whole-exome sequencing data, from quality control and sequence alignment to variant calling and filtering. The participants will learn by doing hands-on exercises using example data sets. The instructors all have practical experience in the analysis of whole-exome sequencing data at Prof Pak Sham’s lab in the Centre for Genomic Sciences, for human diseases that include spinocerebellar ataxia, dilated cardiomyopathy, atrial Standstill, Hirschsprung’s disease, hepatitis B, hepatocarcinoma, nasopharyngeal carcinoma and schizophrenia. The coordinator, Dr. Miaoxin Li, has developed a program for down-stream analysis of whole-exome sequencing data, KGGSeq (http://statgenpro.psychiatry.hku.hk/kggseq/).

Participants should be familiar with the basic principles of human genetics and have some previous experience in the analysis of genetic data (though not necessarily NGS data).

Registration is required and limited to 25 individuals. Please send your CV to Ms Stella Law at This e-mail address is being protected from spambots. You need JavaScript enabled to view it by 27 December 2013. Successful registration would be informed by email.

 

9 Jan 2014
(Thursday)
 
 Time
Topic
Tutors
9:30-10:00am
Introducing exome sequencing study for human diseases
Pak C. SHAM
10:00-10:45am
Examining the raw sequence data
Nick LIN
 
Tea Break
 
11:05am-12:00pm
Introducing Linux/Unix operating system, practical
John WONG
12:00-12:45pm
From sequence mapping and variant calling, theory
Shing Wan CHOI
 
Lunch
 
2:00-3:30pm
From sequence mapping to variant calling, practical (BWA, Picard, and GATK)
Beatrice WU
3:30-4:30pm
Quality control of sequence variants, theory
Clara Sze Man TANG
 
Tea Break
 
4:50-5:50pm
Quality control of sequence variants, practical (GATK)
Clara Sze Man TANG
10 Jan 2014
(Friday)
 
9:30-10:50am
Filtering and prioritizing sequence variants for diseases, theory
Miaoxin LI
 
Tea Break
 
11:10am-12:00pm
Filtering and prioritizing sequence variants, practical (KGGSeq)
Miaoxin LI
12:00-12:40pm
Filtering and prioritizing sequence variants, practical (wKGGSeq)
Jun LI &Miaoxin LI

 

For enquiries, please call 2831-5500 or write to This e-mail address is being protected from spambots. You need JavaScript enabled to view it