Back

Clinical long-read genome sequencing for rare disease diagnostics

2026-01-18 genetic and genomic medicine Title + abstract only
View on medRxiv
Show abstract

BackgroundDiagnostic evaluation of rare genetic disorders continues to rely on multiple test modalities, despite the increasing use of short-read exome or genome sequencing as first-tier tests. Long-read genome sequencing (lrGS) has the potential to consolidate current standard-of-care (SoC) diagnostics into a single assay, but its accuracy and clinical utility in routine practice have not been established at large scale. MethodsWe studied 1000 clinical samples, including 832 index cases, repre...

Predicted journal destinations

1
Genetics in Medicine
57 training papers
#1 35.7%
2
The American Journal of Human Genetics
77 training papers
Top 0.8% 13.6%
3
Genome Medicine
56 training papers
Top 0.5% 7.4%
4
Nature Communications
483 training papers
Top 15% 6.8%
5
Nature Genetics
72 training papers
Top 2% 6.8%
6
Human Genetics and Genomics Advances
39 training papers
Top 3% 2.2%
7
European Journal of Human Genetics
25 training papers
Top 1% 2.2%
8
Scientific Reports
701 training papers
Top 76% 2.2%
9
Journal of Medical Genetics
22 training papers
Top 1% 1.5%
10
Cell Genomics
34 training papers
Top 4% 1.5%
11
PLOS Genetics
39 training papers
Top 4% 1.5%
12
Human Molecular Genetics
28 training papers
Top 6% 1.1%
13
Nature
58 training papers
Top 6% 1.1%
14
npj Genomic Medicine
18 training papers
Top 3% 1.1%
15
PLOS ONE
1737 training papers
Top 98% 0.8%
16
The Journal of Molecular Diagnostics
24 training papers
Top 2% 0.8%
17
Circulation: Genomic and Precision Medicine
30 training papers
Top 7% 0.8%
18
Frontiers in Genetics
32 training papers
Top 7% 0.8%
19
Genes
21 training papers
Top 4% 0.8%
20
Nature Medicine
88 training papers
Top 24% 0.5%
21
Communications Biology
36 training papers
Top 8% 0.5%
22
Brain
69 training papers
Top 11% 0.5%
23
Bioinformatics
24 training papers
Top 5% 0.5%
24
eLife
262 training papers
Top 63% 0.5%
25
Translational Psychiatry
94 training papers
Top 12% 0.5%