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NGS Data Analysis for Genetic Studies of Human Diseases (28-29 Apr 2015)

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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 Human Diseases

28 – 29 April 2015

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). In addition, participants are expected to have basic skills of Linux system.

Applications including a CV should be sent to Ms Stella Law by email: This e-mail address is being protected from spambots. You need JavaScript enabled to view it before 20 April.

Quota: 25 individuals. Successful registration would be informed by email.

28 Apr 2015

(Tuesday)

 

  Time

Topic

Tutors

9:30-10:00am

Introducing Linux/Unix operating system, practical (optional)

Yan Li

10:00-10:30am

Introducing exome sequencing study for human diseases

Pak C. SHAM

 

Tea Break

 

10:45-11:30

Examining the raw sequence data

Nick LIN

11:30-12:30pm

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)

Shing Wan & Yan Li

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

29 Apr 2015

(Wednesday)

 

9:00-10:30am

Downstream sequence analysis for diseases: filtering, prioritization and association

Miaoxin LI &
Hongsheng Gui

 

Tea Break

 

10:45am-12:00pm

Filtering and prioritizing sequence variants, practical (KGGSeq, wKGGseq)

Miaoxin LI

12:00-12:50pm

Association analysis for sequencing data, practical (rvtest)

Hongsheng Gui

 
 
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