Back
#1
17.6%
Top 0.9%
11.7%
Top 1.0%
11.7%
Top 10%
9.2%
Top 2%
6.4%
Top 47%
5.9%
Top 0.2%
3.0%
Top 2%
2.8%
Top 2%
2.8%
Top 2%
1.9%
Top 3%
1.9%
Top 1%
1.5%
Top 1%
1.3%
Top 4%
1.3%
Top 96%
1.3%
Top 2%
1.3%
Top 2%
1.3%
Top 4%
1.3%
Top 4%
1.3%
Top 39%
1.2%
Top 18%
0.7%
Top 13%
0.7%
Top 5%
0.7%
Top 8%
0.7%
ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data
2020-07-02
genetic and genomic medicine
Title + abstract only
View on medRxiv
Show abstract
Whole genome sequencing (WGS) has the potential to outperform clinical microarrays for the detection of structural variants (SV) including copy number variants (CNVs), but has been challenged by high false positive rates. Here we present ClinSV, a WGS based SV integration, annotation, prioritisation and visualisation method, which identified 99.8% of pathogenic ClinVar CNVs >10kb and 11/11 pathogenic variants from matched microarrays. The false positive rate was low (1.5-4.5%) and reproducibilit...
Predicted journal destinations
1
Genome Medicine
56 training papers
2
Genetics in Medicine
57 training papers
3
The American Journal of Human Genetics
77 training papers
4
Nature Communications
483 training papers
5
Nature Genetics
72 training papers
6
Scientific Reports
701 training papers
7
The Journal of Molecular Diagnostics
24 training papers
8
Human Genetics and Genomics Advances
39 training papers
9
Cell Genomics
34 training papers
10
European Journal of Human Genetics
25 training papers
11
PLOS Genetics
39 training papers
12
Journal of Medical Genetics
22 training papers
13
Bioinformatics
24 training papers
14
Nature
58 training papers
15
PLOS ONE
1737 training papers
16
Genes
21 training papers
17
npj Genomic Medicine
18 training papers
18
Human Molecular Genetics
28 training papers
19
Frontiers in Genetics
32 training papers
20
eLife
262 training papers
21
Nature Medicine
88 training papers
22
iScience
74 training papers
23
Communications Biology
36 training papers
24
Cancers
57 training papers