A5070170824- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetic Associations and Epidemiology
- Genomics and Phylogenetic Studies
- Chromosomal and Genetic Variations
- SARS-CoV-2 and COVID-19 Research
- Animal Genetics and Reproduction
- Biomedical and Engineering Education
- Liver Disease Diagnosis and Treatment
- RNA modifications and cancer
- COVID-19 Clinical Research Studies
- Single-cell and spatial transcriptomics
- Artificial Intelligence in Healthcare
- Genetic Mapping and Diversity in Plants and Animals
- Forensic and Genetic Research
- Gene expression and cancer classification
- interferon and immune responses
- Genetics, Bioinformatics, and Biomedical Research
- Cardiovascular Disease and Adiposity
- Genomics and Chromatin Dynamics
- Advanced biosensing and bioanalysis techniques
- Genetic and phenotypic traits in livestock
- Health, Environment, Cognitive Aging
- Nutritional Studies and Diet
Universitat Autònoma de Barcelona
2018-2023
Abstract Inversions are one type of structural variants linked to phenotypic differences and adaptation in multiple organisms. However, there is still very little information about polymorphic inversions the human genome due difficulty their detection. Here, we develop a new high-throughput genotyping method based on probe hybridization amplification, perform complete study 45 common 0.1–415 kb. Most promoted by homologous recombination occur recurrently humans great apes they not tagged...
Despite the interest in characterizing genomic variation, presence of large repeats at breakpoints hinders analysis many structural variants. This is especially problematic for inversions, since there typically no gain or loss DNA. Here, we tested novel linkage-based droplet digital PCR (ddPCR) assays to study 20 inversions ranging from 3.1 742 kb flanked by inverted (IRs) up 134 long. Of those, validated 13 predicted different genome-wide techniques. In addition, obtained new experimental...
Abstract The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture human diseases. However, studies are mainly based on single nucleotide variants (SNVs) and small insertions deletions (indels). Here, we contribute fill this gap by generating dense map focused identification, characterization, phasing structural (SVs). By integrating multiple variant identification methods Logistic Regression Models (LRMs), present...
ABSTRACT Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis host genetic contribution to severe COVID-19 is important improve our understanding underlying mechanisms. Here, we describe an extended GWAS meta-analysis well-characterized cohort 3,260 patients with respiratory failure and 12,483 population controls from Italy, Spain, Norway Germany/Austria, including stratified analyses based on age, sex severity, as well targeted chromosome Y...
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 The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture human diseases. However, studies are mainly based on single nucleotide variants (SNVs) and small insertions deletions (indels). Here, we contribute fill this gap by generating dense map focused identification, characterization phasing structural (SVs). By integrating multiple variant identification methods Logistic Regression models, present catalogue...
SUMMARY Inversions are one type of structural variants linked to phenotypic differences and adaptation in multiple organisms. However, there is still very little information about inversions the human genome due difficulty their detection. Here, thanks development a new high-throughput genotyping method, we have performed complete study representative set 45 common polymorphic inversions. Most promoted by homologous recombination occur recurrently both humans great apes and, since they not...
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.
ABSTRACT Despite the interest in characterizing all genomic variation, presence of large repeats at breakpoints many structural variants hinders their analysis. This is especially problematic case inversions, since they are balanced changes without gain or loss DNA. Here we tested novel linkage-based droplet digital PCR (ddPCR) assays on 20 inversions ranging from 3.1 to 742 kb and flanked by long inverted (IRs) up 134 kb. Among these, validated 13 predicted different genome-wide techniques....