A5057575386- Prenatal Screening and Diagnostics
- Genetic Syndromes and Imprinting
- Gene expression and cancer classification
- Genetic Associations and Epidemiology
- Reproductive biology and impacts on aquatic species
- Artificial Intelligence in Healthcare
- Kruppel-like factors research
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Forensic and Genetic Research
- Genetic and phenotypic traits in livestock
- MicroRNA in disease regulation
- Algorithms and Data Compression
- Genomics and Chromatin Dynamics
- Error Correcting Code Techniques
- Reproductive Biology and Fertility
- Machine Learning in Bioinformatics
- Aquaculture Nutrition and Growth
- Marine Biology and Environmental Chemistry
Igenomix
2020-2022
Whole-genome data has become significantly more accessible over the last two decades. This can largely be attributed to both reduced sequencing costs and imputation models which make it possible obtain nearly whole-genome from less expensive genotyping methods, such as microarray chips. Although there are many different approaches imputation, Hidden Markov Model (HMM) remains most widely used. In this study, we compared latest versions of popular HMM-based tools for phasing imputation:...
The aim of the present article was to study spermatogenic cycle Mytilus galloprovincialis collected in Bay Naples during a whole year and acquire new insights into mechanism control. Knowledge this geographic area is particular interest as, best our knowledge, male gonad has been hitherto unexplored. Testis organization evaluated together with localization enzymes 3β-HSD, 17β-HSD, P450-aromatase, which are strictly connected synthesis two key hormones involved testis activity: testosterone...
Abstract Miscarriage is the spontaneous termination of a pregnancy before 24 weeks gestation. We studied genome euploid miscarried embryos from mothers in range healthy adult individuals to understand genetic susceptibility miscarriage not caused by chromosomal aneuploidies. developed gp , pipeline that we used prioritize 439 unique variants 399 genes, including genes known be associated with miscarriages. Among prioritized found STAG2 coding for cohesin complex subunit, which inactivation...
Abstract Whole-genome data has become significantly more accessible over the last two decades. This can largely be attributed to both reduced sequencing costs and imputation models which make it possible obtain nearly whole-genome from less expensive genotyping methods, such as microarray chips. Although there are many different approaches imputation, Hidden Markov Model remains most widely used. In this study, we compared latest versions of popular based tools for phasing imputation: Beagle...
Abstract Background Polygenic risk scores (PRS) have ushered in a new era genetic epidemiology, offering insights into individual predispositions to wide range of diseases. However, despite recent marked enhancements their predictive power, there are still challenges that need be overcome before PRS-based models can broadly applied the clinic, including sufficient accuracy, easy interpretability and portability across diverse populations. Methods Leveraging trans-ancestry genome-wide...
Abstract In an increasingly diverse world, including admixed individuals in genomic studies is imperative for equity and portability. A crucial first step precise local ancestry inference (LAI). We have developed Orchestra, a LAI model with unprecedented accuracy, trained on over 10,000 single-origin from 35 worldwide populations. employed Orchestra to delve into genetic relationships demographic histories, focus Latin Americans, prime example of admixture, the Ashkenazi Jewish, whose...
ABSTRACT Miscarriage is the spontaneous termination of a pregnancy before 24 weeks gestation. We studied genome euploid miscarried embryos from mothers in range healthy adult individuals to understand genetic susceptibility miscarriage not caused by chromosomal aneuploidies. developed GP, pipeline that we used prioritize 439 unique variants 399 genes, including genes known be associated with miscarriages. Among prioritized found STAG2 coding for cohesin complex subunit, which inactivation...
Abstract Genotype imputation, crucial in genomics research, often faces accuracy limitations, notably for rarer variants. Leveraging data from the 1000 Genomes Project, TOPMed and UK Biobank, we demonstrate that Selphi, our novel imputation method, significantly outperforms Beagle5.4, Minimac4 IMPUTE5 across various metrics (12.5%-26.5% as measured by error count) allele frequencies (13.0%-27.1% low-frequency variants).This improvement boosts variant discovery GWAS improves polygenic risk scores.