EDITORIAL
Published on 04 Oct 2024
Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease
doi 10.3389/fgene.2024.1494860
- 774 views
- Frontiers in Genetics
- Human and Medical Genomics
- Research Topics
- The clinical utility of Long Read Sequencing (LRS) to improve diagnostic yield and uncover biological mechanisms in rare disease
The clinical utility of Long Read Sequencing (LRS) to improve diagnostic yield and uncover biological mechanisms in rare disease
3,725
Total downloads
16k
Total views and downloads
Articles
ORIGINAL RESEARCH
Published on 28 May 2024
Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022
doi 10.3389/fgene.2024.1395988
- 1,420 views
ORIGINAL RESEARCH
Published on 13 Mar 2024
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome
doi 10.3389/fgene.2024.1358334
- 2,396 views
- 2 citations
REVIEW
Published on 06 Mar 2024
Long read sequencing on its way to the routine diagnostics of genetic diseases
doi 10.3389/fgene.2024.1374860
- 6,246 views
- 15 citations
ORIGINAL RESEARCH
Published on 27 Sep 2023
Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex
doi 10.3389/fgene.2023.1256064
- 2,857 views
- 3 citations
Published in
Frontiers in Genetics
Human and Medical Genomics
Epigenomics and Epigenetics
Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Cell and Developmental Biology
- 4.6 impact factor
- 9.7 citescore
Frontiers in Pediatrics
- 2.1 impact factor
- 3.6 citescore