The importance to track variants in genes causing recessive disorders within the family: a FH/sitosterolemia clinical case
Sign Up to like & getrecommendations! Published in 2018 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2018.06.220
Abstract: With thanks to the EAS for support in the form of a Young Investigator Fellowship; Abrantes LB. acknowledges grant BioMolecular/09/2017 read more here.
Keywords: variants genes; importance track; genes causing; track variants ... See more keywords
Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection
Sign Up to like & getrecommendations! Published in 2020 at "Infection, Genetics and Evolution"
DOI: 10.1016/j.meegid.2020.104498
Abstract: Abstract New coronavirus SARS-CoV-2 is capable to infect humans and cause a novel disease COVID-19. Aiming to understand a host genetic component of COVID-19, we focused on variants in genes encoding proteases and genes involved… read more here.
Keywords: variants genes; infection; sars cov; innate immunity ... See more keywords
Association study of variants in genes FTO, SLC6A4, DRD2, BDNF and GHRL with binge eating disorder (BED) in Portuguese women
Sign Up to like & getrecommendations! Published in 2019 at "Psychiatry Research"
DOI: 10.1016/j.psychres.2019.01.047
Abstract: A population based case-control study was conducted in Portuguese women with overweight/obesity to investigate the possible association of variants in genes FTO, SLC6A4, DRD2, BDNF and GHRL with binge eating disorder (BED). The distribution of… read more here.
Keywords: genes fto; variants genes; slc6a4 drd2; drd2 bdnf ... See more keywords
Varmole: a biologically drop-connect deep neural network model for prioritizing disease risk variants and genes
Sign Up to like & getrecommendations! Published in 2021 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btaa866
Abstract: Abstract Summary Population studies such as genome-wide association study have identified a variety of genomic variants associated with human diseases. To further understand potential mechanisms of disease variants, recent statistical methods associate functional omic data… read more here.
Keywords: drop connect; variants genes; deep neural; disease ... See more keywords
Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac073
Abstract: BACKGROUND In order to report clinically actionable incidental findings in genetic testing, the American College of Medical Genetics and Genomics (ACMG) recommended the evaluation of variants in 59 genes associated with highly penetrant mutations. However,… read more here.
Keywords: qatar genome; variants genes; novel variants; incidental findings ... See more keywords
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Sign Up to like & getrecommendations! Published in 2022 at "Science Advances"
DOI: 10.1126/sciadv.abo7112
Abstract: Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We report a new neurodevelopmental disorder (NDD) with common features of language problems, intellectual disability, and behavioral issues caused by de novo… read more here.
Keywords: genes regulating; stress; stress granule; novo variants ... See more keywords
Genetic Variants Associated with Chronic Obstructive Pulmonary Disease Risk: Cumulative Epidemiological Evidence from Meta-Analyses and Genome-Wide Association Studies
Sign Up to like & getrecommendations! Published in 2022 at "Canadian Respiratory Journal"
DOI: 10.1155/2022/3982335
Abstract: Background Last two decades, many association studies on genetic variants and chronic obstructive pulmonary disease (COPD) risk have been published. But results from different studies are inconsistent. Therefore, we performed this article to systematically evaluate… read more here.
Keywords: meta analyses; risk; evidence; variants genes ... See more keywords
Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.839349
Abstract: Context: Rare copy number variants (CNVs) have been associated with the development of severe obesity. However, the potential disease-causing contribution of individual genes within the region of CNVs is often not known. Objective: Screening of… read more here.
Keywords: early onset; genes involved; severe obesity; obesity ... See more keywords
Causal Inference of Genetic Variants and Genes in Amyotrophic Lateral Sclerosis
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.917142
Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal progressive multisystem disorder with limited therapeutic options. Although genome-wide association studies (GWASs) have revealed multiple ALS susceptibility loci, the exact identities of causal variants, genes, cell types, tissues,… read more here.
Keywords: causal inference; lateral sclerosis; inference genetic; variants genes ... See more keywords
Frequencies of variants in genes associated with dyslipidemias identified in Costa Rican genomes
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1114774
Abstract: Dyslipidemias are risk factors in diseases of significant importance to public health, such as atherosclerosis, a condition that contributes to the development of cardiovascular disease. Unhealthy lifestyles, the pre-existence of diseases, and the accumulation of… read more here.
Keywords: costa rica; frequencies variants; genes associated; development ... See more keywords
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes14010048
Abstract: Intellectual disability (ID) is a condition of significant limitation of cognitive functioning and adaptive behavior, with 50% of etiology attributed to genetic predisposition. We recruited two consanguineous Pakistani families manifesting severe ID and developmental delay.… read more here.
Keywords: intellectual disability; pathogenic variants; variants genes; whole exome ... See more keywords