Back

Whole Exome Sequencing Uncovers Key Genetic Variants in Congenital Tooth Agenesis: An Integrative Omics Approach

2024-11-27 genetic and genomic medicine Title + abstract only
View on medRxiv
Show abstract

This study investigates the genetic underpinnings of congenital tooth agenesis (CTA) using a multi-omics approach, integrating whole exome sequencing (WES)and RNA expression analysis. WES was used to analyze the genetic basis of CTA in six affected individuals one with syndromic and five with non-syndromic CTA alongside three healthy and two internal controls. We identified both known and novel variants in candidate genes (EDA, WNT10A, PAX9, TSPEAR) and assessed the functional impacts of novel v...

Predicted journal destinations

1
Nature Communications
483 training papers
Top 7% 11.4%
2
Human Genetics and Genomics Advances
39 training papers
#1 11.4%
3
The American Journal of Human Genetics
77 training papers
Top 1% 10.6%
4
Genetics in Medicine
57 training papers
Top 2% 7.5%
5
Scientific Reports
701 training papers
Top 41% 6.2%
6
Nature Genetics
72 training papers
Top 3% 5.8%
7
npj Genomic Medicine
18 training papers
#1 5.7%
8
Genome Medicine
56 training papers
Top 2% 4.9%
9
PLOS Genetics
39 training papers
Top 3% 1.9%
10
Cell Genomics
34 training papers
Top 3% 1.9%
11
Brain
69 training papers
Top 6% 1.9%
12
European Journal of Human Genetics
25 training papers
Top 2% 1.8%
13
Frontiers in Genetics
32 training papers
Top 2% 1.8%
14
Journal of Medical Genetics
22 training papers
Top 2% 1.5%
15
Human Molecular Genetics
28 training papers
Top 3% 1.5%
16
eLife
262 training papers
Top 30% 1.5%
17
Translational Psychiatry
94 training papers
Top 7% 1.5%
18
Nature
58 training papers
Top 4% 1.3%
19
Proceedings of the National Academy of Sciences
100 training papers
Top 13% 1.1%
20
International Journal of Molecular Sciences
39 training papers
Top 4% 1.1%
21
PLOS ONE
1737 training papers
Top 98% 0.9%
22
Genes
21 training papers
Top 4% 0.9%
23
Molecular Psychiatry
84 training papers
Top 9% 0.9%
24
iScience
74 training papers
Top 14% 0.7%
25
Movement Disorders
49 training papers
Top 8% 0.7%
26
Nature Medicine
88 training papers
Top 20% 0.7%
27
Communications Biology
36 training papers
Top 6% 0.7%
28
Bioinformatics
24 training papers
Top 4% 0.7%