[公告] 博士論文口試 賴俊吉 (2013/12/25)

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Mendelian disease with whole exome sequencing
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The Mendelian disease genes�� hunting is our goal to discover the nature of
the illness and try to find a way to cure it. Exome sequencing is a powerful
tool to characterize DNA sequences surrounding target regions at a much lower
cost compared to the whole genome sequencing technique. The Single Nucleotide
Variation (SNV) and insertion/deletion (Indel) variants called with the
sequence alignment tools and variants calling tools are big raw data for the
analysis. We use the pedigree-genotype method to investigate 3 generations of
a Chinese family with SSS that was characterized by sinus arrest, atrial
fibrillation and atrioventricular conduction disturbance. We narrowed down
the variants to a small set with the pedigree-genotype method. Following with
the annotation and the polymerase chain reaction (PCR) verification, we
identified a novel SNV located in LMNA gene, which encodes the inner nuclear
membrane protein lamin A/C. Structural modeling predicts the mutation may
affect LMNA function.

Publications:
Journal Articles:
1. PALS db: Putative Alternative Splicing database. Yen-Hua Huang, Yu-Tin
Chen, Jiunn-Jei Lai, Shih-Te Yang, Ueng-Cheng Yang. Nucleic Acids Res. 2002
Jan 1;30(1):186-90
2. Whole-exome sequencing to identify a novel LMNA gene mutation associated
with inherited cardiac conduction disease. Chun-Chi Lai, Yung-Hsin Yeh,
Wen-Ping Hsieh, Chi-Tai Kuo, Wen-Ching Wang, Chia-Han Chu, Chiu-Lien Hung,
Chia-Yang Cheng, Hsin-Yi Tsai, Jia-Lin Lee, Chuan-Yi Tang, Lung-An Hsu. PLoS
ONE. 2013 Dec,DOI: 10.1371/journal.pone.0083322

Conference posters:
1. Guide of Putative Alternative Splicing Site Database. Yen-hua Huang,
Yu-tin Chen, Jiunn-Jei Lai, Ueng-Cheng Yang. (GIW 2001)
2. VHB: a web-based Visualization tool to compare the Haplotype Blocks of a
study sample with the 1000 genome project data. Chun-Chi Lai, Yu-Tin Chen,
Wen-Ping Hsieh, Chuan-Yi Tang (ASHG 2013)

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ONE. 2013 Dec, DOI: 10.1371/journal.pone.0083322

Conference posters:
1. Guide of Putative Alternative Splicing Site Database. Yen-hua Huang,
Yu-tin Chen, Jiunn-Jei Lai, Ueng-Cheng Yang. (GIW 2001)

2. VHB: a web-based Visualization tool to compare the Haplotype Blocks of a
study sample with the 1000 genome project data. Chun-Chi Lai, Yu-Tin Chen,
Wen-Ping Hsieh, Chuan-Yi Tang (ASHG 2013)

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