Back

Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel

2024-05-14 genetic and genomic medicine Title + abstract only
View on medRxiv
Show abstract

BackgroundIt is known that gene- and disease-specific evidence domains can potentially improve the capability of the ACMG/AMP classification criteria to categorize pathogenicity for variants. We aimed to include gene-disease-specific clinical, predictive, and functional domain specifications to the ACMG/AMP criteria with respect to MMR genes. MethodsStarting with the original criteria (InSiGHT criteria) developed by the InSiGHT Variant Interpretation Committee, we systematically addressed speci...

Predicted journal destinations

1
Genetics in Medicine
57 training papers
Top 0.3% 22.3%
2
The American Journal of Human Genetics
77 training papers
Top 1% 11.0%
3
Cancers
57 training papers
Top 4% 6.4%
4
Genome Medicine
56 training papers
Top 0.8% 6.4%
5
Journal of Medical Genetics
22 training papers
#1 6.4%
6
Scientific Reports
701 training papers
Top 56% 5.0%
7
European Journal of Human Genetics
25 training papers
Top 0.4% 4.2%
8
The Journal of Molecular Diagnostics
24 training papers
Top 0.2% 2.8%
9
Genes
21 training papers
Top 0.3% 1.9%
10
Human Genetics and Genomics Advances
39 training papers
Top 3% 1.9%
11
Nature Communications
483 training papers
Top 37% 1.9%
12
PLOS ONE
1737 training papers
Top 92% 1.9%
13
Nature Genetics
72 training papers
Top 6% 1.9%
14
Frontiers in Genetics
32 training papers
Top 2% 1.6%
15
Frontiers in Oncology
34 training papers
Top 5% 1.6%
16
PLOS Genetics
39 training papers
Top 4% 1.5%
17
eLife
262 training papers
Top 29% 1.5%
18
Human Molecular Genetics
28 training papers
Top 4% 1.3%
19
npj Genomic Medicine
18 training papers
Top 1% 1.3%
20
Cell Genomics
34 training papers
Top 5% 1.3%
21
International Journal of Cancer
18 training papers
Top 1% 1.0%
22
International Journal of Molecular Sciences
39 training papers
Top 5% 0.9%
23
Bioinformatics
24 training papers
Top 3% 0.7%
24
Cancer Medicine
17 training papers
Top 4% 0.7%