Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1209744 | PMC |
| http://dx.doi.org/10.1093/genetics/40.5.604 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy.
Ann Clin Transl Neurol
November 2024
Department of Neurology, Shenzhen Children's Hospital, No. 7019 Yitian Road, Futian District, Shenzhen, 518038, Guangdong, PR China.
Objective: Approximately 7% of individuals with dystrophinopathy remain undiagnosed at the genetic level using conventional genetic tests like multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS). We used the optical genome mapping (OGM) technology to detect and analyze uncommon mutations or structural variations (SVs) within the DMD gene, thus contributing to more precise clinical diagnoses.
Methods: We herein included eight patients with dystrophinopathy (six males and two females) in whom pathogenic variants of the DMD gene could not be accurately identified using MLPA and NGS.
Centromeres are hotspots for chromosomal inversions and breeding traits in mango.
New Phytol
January 2025
School of the Environment, The University of Queensland, Brisbane, Qld, 4072, Australia.
Chromosomal inversions can preserve combinations of favorable alleles by suppressing recombination. Simultaneously, they reduce the effectiveness of purifying selection enabling deleterious alleles to accumulate. This study explores how areas of low recombination, including centromeric regions and chromosomal inversions, contribute to the accumulation of deleterious and favorable loci in 225 Mangifera indica genomes from the Australian Mango Breeding Program.
View Article and Find Full Text PDFFitness consequences of structural variation inferred from a House Finch pangenome.
Proc Natl Acad Sci U S A
November 2024
Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138.
Genomic structural variants (SVs) play a crucial role in adaptive evolution, yet their average fitness effects and characterization with pangenome tools are understudied in wild animal populations. We constructed a pangenome for House Finches (), a model for studies of host-pathogen coevolution, using long-read sequence data on 16 individuals (32 de novoassembled haplotypes) and one outgroup. We identified 887,118 SVs larger than 50 base pairs, mostly (60%) involving repetitive elements, with reduced SV diversity in the eastern US as a result of its introduction by humans.
View Article and Find Full Text PDFPlacental Malaria and Its Relationship with Neonatal Birth Weight among Primigravidae: An Analytical Cross-sectional Study.
Explor Res Hypothesis Med
June 2024
Division of Maternal and Fetal Medicine, Department of Gynaecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, USA.
Background And Objectives: Malaria can be fatal during pregnancy, posing a serious risk to both mothers and fetuses, especially in sub-Saharan Africa. Primigravidae are particularly susceptible to placental malaria in areas with high rates of transmission due to insufficient immunity. This study aimed to determine the prevalence of placental malaria infection, risk factors, types of Plasmodium causing malaria during pregnancy, and its relationship with neonatal birth weight among primigravidae.
View Article and Find Full Text PDFIdentifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.
BMC Med Genomics
September 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Duchenne Muscular Dystrophy (DMD) is an X-linked disorder caused by mutations in the DMD gene, with large deletions being the most common type of mutation. Inversions involving the DMD gene are a less frequent cause of the disorder, largely because they often evade detection by standard diagnostic methods such as multiplex ligation probe amplification (MLPA) and whole exome sequencing (WES).
Case Presentation: Our research identified two intrachromosomal inversions involving the dystrophin gene in two unrelated families through Long-read sequencing (LRS).
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!