Back

Clinical validity of single-gene non-invasive prenatal testing for sickle cell disease and beta thalassemia

2021-09-05 genetic and genomic medicine Title + abstract only
View on medRxiv
Show abstract

BackgroundSickle cell disease (SCD) and beta thalassemia ({beta}-thalassemia) are among the most common and severe genetically inherited disorders in the world. Although the maternal carrier status of these beta hemoglobinopathies is screened as a part of routine prenatal care in the US, the paternal carrier status is usually unavailable. Under this current screening paradigm, identification of the majority of SCD and beta thalassemia cases could therefore be delayed until newborn screening resu...

Predicted journal destinations

1
Genetics in Medicine
57 training papers
Top 0.8% 13.9%
2
Scientific Reports
701 training papers
Top 17% 10.4%
3
The American Journal of Human Genetics
77 training papers
Top 2% 8.6%
4
PLOS ONE
1737 training papers
Top 63% 8.6%
5
Genome Medicine
56 training papers
Top 1% 6.1%
6
Genes
21 training papers
#1 5.7%
7
The Journal of Molecular Diagnostics
24 training papers
#1 4.8%
8
Human Molecular Genetics
28 training papers
Top 0.6% 3.7%
9
European Journal of Human Genetics
25 training papers
Top 0.7% 3.7%
10
Nature Communications
483 training papers
Top 29% 3.7%
11
Human Genetics and Genomics Advances
39 training papers
Top 4% 1.8%
12
Journal of Medical Genetics
22 training papers
Top 2% 1.5%
13
Frontiers in Genetics
32 training papers
Top 5% 1.3%
14
npj Genomic Medicine
18 training papers
Top 2% 1.3%
15
Cell Genomics
34 training papers
Top 6% 1.3%
16
Nature Genetics
72 training papers
Top 9% 1.1%
17
PLOS Genetics
39 training papers
Top 7% 0.9%
18
Bioinformatics
24 training papers
Top 3% 0.9%
19
eLife
262 training papers
Top 47% 0.9%
20
Circulation: Genomic and Precision Medicine
30 training papers
Top 6% 0.9%
21
Heliyon
57 training papers
Top 15% 0.7%
22
International Journal of Molecular Sciences
39 training papers
Top 8% 0.7%
23
Proceedings of the National Academy of Sciences
100 training papers
Top 22% 0.7%
24
Pediatric Infectious Disease Journal
16 training papers
Top 2% 0.7%