eprintid: 2688
rev_number: 17
eprint_status: archive
userid: 369
dir: disk0/00/00/26/88
datestamp: 2017-12-08 04:56:21
lastmod: 2017-12-08 04:56:21
status_changed: 2017-12-08 04:56:21
type: conference_item
metadata_visibility: show
creators_name: Le, Sy Vinh
creators_name: Nguyen, Duc Canh
creators_name: Bui, Ngoc Thang
creators_name: Do, Thi Thu Hang
creators_name: Duong, Quoc Chinh
creators_name: Tran, Cong Hoang
creators_name: Le, Ba Hong Minh
creators_name: Pham, Thi Dieu Linh
creators_id: vinhls@vnu.edu.vn
creators_id: canhnd.uet@gmail.com
creators_id: thangbn@vnu.edu.vn
title: Genomedics: Whole exome analysis system for clinical studies
ispublished: pub
subjects: IT
divisions: fac_fit
abstract: 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.
date: 2017-11-23
date_type: published
publisher: IEEE
official_url: http://ieeexplore.ieee.org/document/8119449/
id_number: 10.1109/KSE.2017.8119449
contact_email: vinhbio@gmail.com
full_text_status: public
pres_type: paper
publication: 2017 9th International Conference on Knowledge and Systems Engineering(KSE)
pagerange: 142-147
event_title: The 9th International Conference on Knowledge and Systems Engineering (KSE)
event_location: Hue, Vietnam
event_dates: 19-21 October 2017
event_type: conference
refereed: FALSE
citation:   Le, Sy Vinh and Nguyen, Duc Canh and Bui, Ngoc Thang and Do, Thi Thu Hang and Duong, Quoc Chinh and Tran, Cong Hoang and Le, Ba Hong Minh and Pham, Thi Dieu Linh  (2017) Genomedics: Whole exome analysis system for clinical studies.  In: The 9th International Conference on Knowledge and Systems Engineering (KSE), 19-21 October 2017, Hue, Vietnam.     
document_url: https://eprints.uet.vnu.edu.vn/eprints/id/eprint/2688/1/Genomedics%20Whole%20exome%20analysis%20system%20for%20clinical%20studies.pdf