Back
#1
45.7%
Top 2%
8.6%
Top 79%
5.6%
Top 0.1%
5.6%
Top 62%
4.3%
Top 3%
4.3%
Top 0.6%
2.2%
Top 5%
1.7%
Top 7%
1.7%
Top 0.9%
1.7%
Top 3%
1.5%
Top 5%
1.5%
Top 3%
1.1%
Top 6%
1.1%
Top 2%
0.8%
Top 7%
0.8%
Top 7%
0.8%
Top 57%
0.8%
Top 5%
0.6%
Top 71%
0.5%
Top 9%
0.5%
Consultation informs strategies to improve functional evidence use in variant classification
2024-12-06
genetic and genomic medicine
Title + abstract only
View on medRxiv
Show abstract
To determine if a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Experimental assay data can provide strong functional evidence for or against pathogenicity in variant classification, but appears to be underutilised. We surveyed genetic diagnostic professionals in Australasia to assess their application of functional evidence in clinical practice. Results indicated that su...
Predicted journal destinations
1
Genetics in Medicine
57 training papers
2
The American Journal of Human Genetics
77 training papers
3
PLOS ONE
1737 training papers
4
European Journal of Human Genetics
25 training papers
5
Scientific Reports
701 training papers
6
Genome Medicine
56 training papers
7
Journal of Medical Genetics
22 training papers
8
Human Genetics and Genomics Advances
39 training papers
9
Nature Genetics
72 training papers
10
Genes
21 training papers
11
Frontiers in Genetics
32 training papers
12
PLOS Genetics
39 training papers
13
npj Genomic Medicine
18 training papers
14
Human Molecular Genetics
28 training papers
15
The Journal of Molecular Diagnostics
24 training papers
16
Cell Genomics
34 training papers
17
Circulation: Genomic and Precision Medicine
30 training papers
18
Nature Communications
483 training papers
19
Bioinformatics
24 training papers
20
BMJ Open
553 training papers
21
Cancers
57 training papers