Our view of SNPs has evolved significantly from harmless mutational events that accumulated through the history of human race to important players in human health and disease. As a result, determining the pathologic vs. benign nature of SNPs on pure statistical basis is now viewed as too simplistic. Here, we show that two previously reported SNPs in COL6A2 and AGL represent disease-causing mutation for Ullrich Muscular Dystrophy and Glycogenosis type III, respectively, in homoallelic state. This report urges caution in interpreting SNPs in databases in the clinical genetics setting and calls for sequencing runs of homozygosity in healthy individuals as a promising approach to better annotate SNP databases.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ejmg.2010.10.009 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
MixDeR: A SNP mixture deconvolution workflow for forensic genetic genealogy.
Forensic Sci Int Genet
January 2025
National Bioforensic Analysis Center, National Biodefense Analysis and Countermeasures Center, Operated by Battelle National Biodefense Institute for the US. Department of Homeland Security Science and Technology Directorate, 8300 Research Plaza, Fort Detrick, MD 21702, USA. Electronic address:
The generation of forensic DNA profiles consisting of single nucleotide polymorphisms (SNPs) is now being facilitated by wider adoption of next-generation sequencing (NGS) methods in casework laboratories. At the same time, and in part because of this advance, there is an intense focus on the generation of SNP profiles from evidentiary specimens for so-called forensic or investigative genetic genealogy (FGG or IGG) applications. However, FGG methods are constrained by the algorithms for genealogical database searches, which were designed for use with single-source profiles, and the fact that many forensic samples are mixtures.
View Article and Find Full Text PDFAssociation Between Single-Nucleotide Polymorphisms in (), , and Genes with Severe Symptoms in Children Presenting COVID-19.
Viruses
December 2024
Instituto René Rachou/Fiocruz Minas, Belo Horizonte 30190-009, MG, Brazil.
The global number of COVID-19 deaths has reached 7 million, with 4% of these deaths occurring in children and adolescents. In Brazil, around 1500 children up to 11 years old died from the disease. The most common symptoms in children are respiratory, potentially progressing to severe illnesses, such as severe acute respiratory syndrome (SARS) and MIS-C.
View Article and Find Full Text PDFVitamin Metabolism and Its Dependency on Genetic Variations Among Healthy Adults: A Systematic Review for Precision Nutrition Strategies.
Nutrients
January 2025
University Centre for Prevention and Sports Medicine, Department of Orthopaedics, Balgrist University Hospital, University of Zurich, 8008 Zurich, Switzerland.
Background/objectives: In recent years, there has been a growing interest in precision nutrition and its potential for disease prevention. Differences in individual responses to diet, especially among populations of different ancestry, have underlined the importance of understanding the effects of genetic variations on nutrient intake (nutrigenomics). Since humans generally cannot synthesize essential vitamins, the maintenance of healthy bodily functions depends on dietary vitamin intake.
View Article and Find Full Text PDFIdentification of Strains from Animal Cases in Ethiopia and Genetic Characterization by Whole-Genome Sequencing.
Pathogens
January 2025
Aklilu Lemma Institute of Pathobiology, Addis Ababa University, Addis Ababa P.O. Box 1176, Ethiopia.
Anthrax is a zoonotic disease characterized by rapid onset with usual fatal outcomes in livestock and wildlife. In Ethiopia, anthrax is a persistent disease; however, there are limited data on the isolation and molecular characterization of strains. This study aimed to characterize isolated from animal anthrax outbreaks between 2019 and 2024, from different localities in Ethiopia.
View Article and Find Full Text PDFGenetic Nurture Effects on Type 2 Diabetes Among Chinese Han Adults: A Family-Based Design.
Biomedicines
January 2025
Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China.
: Genes and environments were transmitted across generations. Parents' genetics influence the environments of their offspring; these two modes of inheritance can produce a genetic nurture effect, also known as indirect genetic effects. Such indirect effects may partly account for estimated genetic variance in T2D.
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!