TY  - CONF
ID  - SisLab2688
UR  - http://ieeexplore.ieee.org/document/8119449/
A1  - Le, Sy Vinh
A1  - Nguyen, Duc Canh
A1  - Bui, Ngoc Thang
A1  - Do, Thi Thu Hang
A1  - Duong, Quoc Chinh
A1  - Tran, Cong Hoang
A1  - Le, Ba Hong Minh
A1  - Pham, Thi Dieu Linh
Y1  - 2017/11/23/
N2  - Whole exome sequencing (WES) is a widely used technique in both medical studies and clinical practice. However, a number of studies show that the results produced by different WES analysis pipelines are not always homogeneous. To this end, we propose a method (called Genomedics) using a consensus approach to expand the list of variants by combining results called from six separate pipelines with sensitive options. To evaluate the performance of the proposed method, Gemomedics was compared to seven existing methods when they were tested on two datasets and F1-score was used as an indicator of accuracy. The results showed that Genomedics has the highest score among seven methods. We also applied Genomedics to analyze whole exomes from Multiple Myeloma and Dravet syndrome patients and found interesting results. The results demonstrate the promising applications of Genomedics in clinical studies.
PB  - IEEE
TI  - Genomedics: Whole exome analysis system for clinical studies
SP  - 142
M2  - Hue, Vietnam
AV  - public
EP  - 147
T2  - The 9th International Conference on Knowledge and Systems Engineering (KSE)
ER  -