Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Genome wide landscaping of copy number variations for horse inter-breed variability.
Anim Biotechnol
December 2025
Division of Agricultural Bioinformatics, ICAR-Indian Agricultural Statistics Research Institute, New Delhi, India.
Copy number variations (CNVs) have become widely acknowledged as a significant source of genomic variability and phenotypic variance. To understand the genetic variants in horses, CNVs from six Indian horse breeds, Manipuri, Zanskari, Bhutia, Spiti, Kathiawari and Marwari were discovered using Axiom Equine Genotyping Array. These breeds differed in agro-climatic adaptation with distinct phenotypic characters.
View Article and Find Full Text PDFNovel Synonymous HLA-B*35:01:80 Allele Identified by Next-Generation Sequencing.
HLA
January 2025
Federal State Budget Institution National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, Moscow, Russia.
The new HLA-B*35:01:80 allele showed one synonymous nucleotide difference compared to the HLA-B*35:01:01:01 allele in codon 137.
View Article and Find Full Text PDFClinical evaluation of long-read sequencing-based episignature detection in developmental disorders.
Genome Med
January 2025
Laboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, 3000, Belgium.
Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies.
View Article and Find Full Text PDFPre-processing of paleogenomes: mitigating reference bias and postmortem damage in ancient genome data.
Genome Biol
January 2025
Department of Biological Sciences, Middle East Technical University, Ankara, Turkey.
We investigate alternative strategies against reference bias and postmortem damage in low coverage paleogenomes. Compared to alignment to the linear reference genome, we show that masking known polymorphic sites and graph alignment effectively remove reference bias, but only starting from raw read files. We next study approaches to overcome postmortem damage: trimming, rescaling, and our newly developed algorithm, bamRefine (github.
View Article and Find Full Text PDFPreimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths.
Orphanet J Rare Dis
January 2025
Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Purpose: Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology strategy to prevent disease-causing gene mutations from being transmitted to offspring. The aim of this study was to report the use of PGT-M strategy based on karyomapping in four families to avoid the birth of SCID children.
View Article and Find Full Text PDFWant 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!