Back

A Novel Methodology to Recalibrate Pathogenic Range of SCA36 Repeat Expansions for PGT-M

2024-08-14 genetic and genomic medicine Title + abstract only
View on medRxiv
Show abstract

BackgroundSpinocerebellar ataxia-36 (SCA36) is an inherited neurodegenerative disorder caused by the heterozygous expansion of an intronic GGCCTG hexanucleotide repeat in the NOP56 gene on chromosome 20p13. Unaffected individuals typically carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500. However, based on a single study, this pathogenic range was conservatively established, limiting its extended clinical applicability such as preimplantation genetic testing (PGT). In this ...

Predicted journal destinations

1
Scientific Reports
701 training papers
Top 10% 13.5%
2
Genetics in Medicine
57 training papers
Top 1% 9.3%
3
The American Journal of Human Genetics
77 training papers
Top 4% 5.5%
4
PLOS ONE
1737 training papers
Top 81% 5.2%
5
Genome Medicine
56 training papers
Top 3% 3.8%
6
Human Genetics and Genomics Advances
39 training papers
Top 0.9% 3.8%
7
Movement Disorders
49 training papers
Top 3% 3.6%
8
Orphanet Journal of Rare Diseases
15 training papers
#1 3.6%
9
European Journal of Human Genetics
25 training papers
Top 0.9% 2.9%
10
Frontiers in Genetics
32 training papers
Top 0.7% 2.6%
11
The Journal of Molecular Diagnostics
24 training papers
Top 0.3% 2.6%
12
npj Genomic Medicine
18 training papers
Top 0.6% 1.8%
13
International Journal of Molecular Sciences
39 training papers
Top 2% 1.8%
14
Nature Genetics
72 training papers
Top 7% 1.8%
15
Nature Communications
483 training papers
Top 40% 1.8%
16
Genes
21 training papers
Top 2% 1.4%
17
Brain
69 training papers
Top 8% 1.4%
18
Communications Biology
36 training papers
Top 1% 1.4%
19
Journal of Medical Genetics
22 training papers
Top 2% 1.4%
20
PLOS Genetics
39 training papers
Top 5% 1.4%
21
Annals of Clinical and Translational Neurology
22 training papers
Top 2% 1.4%
22
BMC Genomics
15 training papers
#1 1.4%
23
Bioinformatics
24 training papers
Top 1% 1.4%
24
Computers in Biology and Medicine
39 training papers
Top 7% 1.2%
25
Human Molecular Genetics
28 training papers
Top 5% 1.2%
26
Cell Genomics
34 training papers
Top 6% 1.2%
27
Translational Psychiatry
94 training papers
Top 9% 1.1%
28
Med
26 training papers
Top 0.6% 1.1%
29
Neurobiology of Aging
29 training papers
Top 4% 1.1%
30
PLOS Computational Biology
141 training papers
Top 13% 0.9%