Improving detection of copy-number variation by simultaneous bias correction and read-depth segmentation
JP Szatkiewicz, WB Wang, PF Sullivan… - Nucleic acids …, 2013 - academic.oup.com
Structural variation is an important class of genetic variation in mammals. High-throughput
sequencing (HTS) technologies promise to revolutionize copy-number variation (CNV) …
sequencing (HTS) technologies promise to revolutionize copy-number variation (CNV) …
A survey of copy‐number variation detection tools based on high‐throughput sequencing data
Copy‐number variation (CNV) is a major class of genomic variation with potentially
important functional consequences in both normal and diseased populations. Remarkable …
important functional consequences in both normal and diseased populations. Remarkable …
Detecting copy number variation with mated short reads
The development of high-throughput sequencing (HTS) technologies has opened the door
to novel methods for detecting copy number variants (CNVs) in the human genome. While in …
to novel methods for detecting copy number variants (CNVs) in the human genome. While in …
Statistical challenges associated with detecting copy number variations with next-generation sequencing
Motivation: Analysing next-generation sequencing (NGS) data for copy number variations
(CNVs) detection is a relatively new and challenging field, with no accepted standard …
(CNVs) detection is a relatively new and challenging field, with no accepted standard …
[HTML][HTML] cnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data
Recent advances in sequencing technologies provide the means for identifying copy
number variation (CNV) at an unprecedented resolution. A single next-generation …
number variation (CNV) at an unprecedented resolution. A single next-generation …
CNVeM: copy number variation detection using uncertainty of read mapping
Z Wang, F Hormozdiari, WY Yang… - Journal of …, 2013 - liebertpub.com
Copy number variations (CNVs) are widely known to be an important mediator for diseases
and traits. The development of high-throughput sequencing (HTS) technologies has …
and traits. The development of high-throughput sequencing (HTS) technologies has …
[HTML][HTML] A computational method for detecting copy number variations using scale-space filtering
J Lee, U Lee, B Kim, J Yoon - BMC bioinformatics, 2013 - Springer
Background As next-generation sequencing technology made rapid and cost-effective
sequencing available, the importance of computational approaches in finding and analyzing …
sequencing available, the importance of computational approaches in finding and analyzing …
[HTML][HTML] CNV-TV: A robust method to discover copy number variation from short sequencing reads
Background Copy number variation (CNV) is an important structural variation (SV) in human
genome. Various studies have shown that CNVs are associated with complex diseases …
genome. Various studies have shown that CNVs are associated with complex diseases …
PEcnv: accurate and efficient detection of copy number variations of various lengths
X Wang, Y Xu, R Liu, X Lai, Y Liu, S Wang… - Briefings in …, 2022 - academic.oup.com
Copy number variation (CNV) is a class of key biomarkers in many complex traits and
diseases. Detecting CNV from sequencing data is a substantial bioinformatics problem and …
diseases. Detecting CNV from sequencing data is a substantial bioinformatics problem and …
[HTML][HTML] CONY: A Bayesian procedure for detecting copy number variations from sequencing read depths
YC Wei, GH Huang - Scientific reports, 2020 - nature.com
Copy number variations (CNVs) are genomic structural mutations consisting of abnormal
numbers of fragment copies. Next-generation sequencing of read-depth signals mirrors …
numbers of fragment copies. Next-generation sequencing of read-depth signals mirrors …
相关搜索
- read depth bias correction
- read depth copy number variation
- simultaneous bias correction copy number
- read depth improving detection
- improving detection bias correction
- copy number variation improving detection
- statistical challenges copy number variations
- various lengths copy number variations
- copy number variation short sequencing
- bayesian procedure copy number variations
- copy number variation bias correction