A5038859255- Genetic Associations and Epidemiology
- Meta-analysis and systematic reviews
- Lipid metabolism and biosynthesis
- Sleep and related disorders
- Genetic Mapping and Diversity in Plants and Animals
- Health Systems, Economic Evaluations, Quality of Life
- Diabetes, Cardiovascular Risks, and Lipoproteins
- BRCA gene mutations in cancer
- Machine Learning in Healthcare
- Sleep and Wakefulness Research
- Immune Cell Function and Interaction
- Statistical Methods in Clinical Trials
- Pregnancy and preeclampsia studies
- Lipid metabolism and disorders
- Genetic and phenotypic traits in livestock
- Chronic Disease Management Strategies
- Genetic diversity and population structure
- Dementia and Cognitive Impairment Research
- Genomic variations and chromosomal abnormalities
- RNA Research and Splicing
- Diagnosis and Treatment of Venous Diseases
- Cannabis and Cannabinoid Research
- Biomedical Text Mining and Ontologies
- Erythrocyte Function and Pathophysiology
- Gestational Diabetes Research and Management
University of Helsinki
2017-2025
Institute for Molecular Medicine Finland
2017-2025
Manipal Academy of Higher Education
2015
Kuwait Institute for Medical Specialization
1998
Abstract Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses 141 species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10 −8 ), 10 which associate risk including five new loci- COL5A1 , GLTPD2 SPTLC3 MBOAT7 GALNT16 (false...
Abstract Varicose veins is the most common manifestation of chronic venous disease that displays female-biased incidence. To identify protein-inactivating variants could guide identification drug target genes for varicose and genetic evidence prevalence difference between sexes, we conducted a genome-wide association study in Finns using FinnGen dataset with 17,027 cases 190,028 controls. We identified 50 associated loci ( P < 5.0 × 10 −8 ) which 29 were novel including one near ERG...
Abstract Previous research has shown that using population-specific reference panels a significant effect on downstream population genomic analyses like haplotype phasing, genotype imputation, and association, especially in the context of isolates. Here, we developed high-resolution recombination rate mapping at 10 50 kb scale high-coverage (20–30×) whole-genome sequenced data 55 family trios from Finland compared it to rates non-Finnish Europeans (NFE). We tested effects statistical phasing...
Good quality medical research generally requires not only an expertise in the chosen field of interest but also a sound knowledge statistical methodology. The number articles which have been published Indian journals has increased quite substantially past decade. aim this study was to collate all evidence on design and analyses used selected leading journals. Ten (10) were based impact factors original 2003 (N = 588) 2013 774) categorized reviewed. A validated checklist design, analyses,...
We report four sibs with Kenny-Caffey syndrome in a consanguineous Bedouin family. The first two died the neonatal period while remaining affected brother and sister had all characteristic clinical, biochemical, radiological abnormalities of syndrome. These included severe pre- postnatal growth retardation, cortical thickening tubular bones medullary stenosis, eye abnormalities, facial dysmorphism, hypocalcaemia, low levels parathyroid hormone. children also showed intracranial...
Abstract Aim Genetic investigation of human plasma lipidome to get insights into lipid-related disorders beyond traditional lipid measures. Methods and Results We performed a genome-wide association study (GWAS) 141 species (n=2,181 individuals), followed by phenome-wide scans (PheWAS) with 44 clinical endpoints related cardiometabolic, psychiatric gastrointestinal (n=456,941 individuals). SNP-based heritability for ranged from 0.10-0.54. Lipids long-chain polyunsaturated fatty acids showed...
Successful development of novel therapies requires that clinical trials are conducted in patient cohorts with the highest benefit-to-risk ratio. Population-based biobanks comprehensive health and genetic data from large numbers individuals hold promise to facilitate identification trial participants, particularly when interventions need start while symptoms still mild, such as for Alzheimer's disease (AD). This study describes a process recall studies FinnGen. We demonstrate feasibility...
Network meta-analysis (NMA) is an extension of pairwise that facilitates comparisons multiple interventions over a single analysis. It the method in which (that is, three or more) are compared using both direct within randomized controlled trials and indirect across based on common comparator. NMA methodologically complex to simple as it accounts for broader evidence base. Results from more useful policy makers, service commissioners, providers when making choices between alternatives than...
The current study was conducted to compare morphological and molecular identification methods for the fungus M.canis isolated from 42 patients with dermatophytosis who were clinically diagnosed by a dermatologist, after review consultant dermatologist venereologist in Al-Muthanna Governorate at Al-Hussein Teaching Hospital. In period January November 2024, using traditional of isolation laboratory identification, polymerase chain reaction (PCR) technology.
Abstract Founder population size, demographic changes (eg. bottlenecks or rapid expansion) can lead to variation in recombination rates across different populations. Previous research has shown that using population-specific reference panels a significant effect on downstream genomic analysis like haplotype phasing, genotype imputation and association, especially the context of isolates. Here, we developed high-resolution rate mapping at 10kb 50kb scale high-coverage (20-30x) whole-genome...
Network Meta-analysis (NMA) is a generalization of pairwise meta-analysis that permits multiple comparisons (three or more treatment groups) in single analysis. It includes both direct treatments which have been compared head-to-head and also indirect comparison not head-to-head, but do possess common comparator thus accounting for broader evidence base. A results pooled estimate, whereas NMA leads to the computation several such estimates. The present article illustrates procedure by...
Improper reporting of diagnostic studies leads to an incorrect assessment their clinical performance. STARD (Standards for Reporting Diagnostic Accuracy Studies) checklist was launched in 2003 with the intention improving quality accuracy studies. The main aim this study check extent which published follow 28-item checklist. We conducted a literature survey Indian Journal Medical Research (IJMR) between years 1995-2013 evaluating by checking adherence STARD. Relevant (N=76) were retrieved...
Improper reporting of diagnostic studies leads to an incorrect assessment their clinical performance. STARD (Standards for Reporting Diagnostic Accuracy Studies) checklist was launched in 2003 with the intention improving quality accuracy studies. The main aim this study check extent which published follow 28-item checklist. We conducted a literature survey Indian Journal Medical Research (IJMR) between years 1995-2013 evaluating by checking adherence STARD. Relevant (N=76) were retrieved...