2016년 컴퓨터종합학술대회
Current Result Document : 2 / 2
| 한글제목(Korean Title) |
어셈블리 기반 삽입결실 변이 탐지 소프트웨어 도구의 비교 분석 |
| 영문제목(English Title) |
Comparative Analysis of Assembly- - based Insertion and Deletion Calling Tools |
| 저자(Author) |
류단휘
이홍란
황규백
Duanhui Liu
Honglan Li
Kyu-Baek Hwang
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| 원문수록처(Citation) |
VOL 43 NO. 01 PP. 0830 ~ 0832 (2016. 06) |
한글내용
(Korean Abstract) |
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영문내용
(English Abstract) |
Insertions and deletions (INDELs) ― one of the most common forms of structural genomic variants ― are known to have direct or indirect impact on various human genetic diseases. INDEL calling is a challenging problem, partly due to sequencing and alignment errors as well as repetitive elements in human genome. Thus, a substantial amount of false positives and false negatives are believed to exist in results from current variant calling tools. In this paper, we compare three state-of-the-art assembly-based variant calling methods, assessing their sensitivity and precision using a gold standard data set. Our comparison results are helpful to researchers in choosing an appropriate workflow for INDEL calling.
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| 키워드(Keyword) |
insertions
deletions
INDELs
INDEL calling
assembly
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| 파일첨부 |
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