Cargando…

Genetic associations of protein-coding variants in human disease

Genome-wide association studies (GWAS) have identified thousands of genetic variants linked to the risk of human disease. However, GWAS have so far remained largely underpowered in relation to identifying associations in the rare and low-frequency allelic spectrum and have lacked the resolution to t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sun, Benjamin B., Kurki, Mitja I., Foley, Christopher N., Mechakra, Asma, Chen, Chia-Yen, Marshall, Eric, Wilk, Jemma B., Chahine, Mohamed, Chevalier, Philippe, Christé, Georges, Palotie, Aarno, Daly, Mark J., Runz, Heiko
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8891017/ https://www.ncbi.nlm.nih.gov/pubmed/35197637 http://dx.doi.org/10.1038/s41586-022-04394-w

Ejemplares similares

The impact of rare protein coding genetic variation on adult cognitive function
por: Chen, Chia-Yen, et al.
Publicado: (2023)

Genome-wide association study of varicose veins identifies a protective missense variant in GJD3 enriched in the Finnish population
por: Helkkula, Pyry, et al.
Publicado: (2023)

Sudden Death of Cardiac Origin and Psychotropic Drugs
por: Timour, Quadiri, et al.
Publicado: (2012)

Efficient and accurate frailty model approach for genome-wide survival association analysis in large-scale biobanks
por: Dey, Rounak, et al.
Publicado: (2022)

Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis
por: Ruotsalainen, Sanni E., et al.
Publicado: (2022)

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
por: Rahikkala, Elisa, et al.
Publicado: (2022)

Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation
por: Saarentaus, Elmo C., et al.
Publicado: (2023)

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease
por: Tallgren, Antti, et al.
Publicado: (2023)

The burden of rare protein-truncating genetic variants on human lifespan
por: Liu, Jimmy Z., et al.
Publicado: (2022)

Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants
por: Saarentaus, Elmo Christian, et al.
Publicado: (2021)

Mono- and biallelic variant effects on disease at biobank scale
por: Heyne, H. O., et al.
Publicado: (2023)

ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease
por: Helkkula, Pyry, et al.
Publicado: (2021)

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland
por: Kurki, Mitja I., et al.
Publicado: (2019)

Rare genetic variants impact muscle strength
por: Huang, Yunfeng, et al.
Publicado: (2023)

LAVAA: a lightweight association viewer across ailments
por: Fauman, Eric B, et al.
Publicado: (2023)

Use of electronic health record data mining for heart failure subtyping
por: Vuori, Matti A., et al.
Publicado: (2023)

From genetic discovery to future personalized health research
por: Palotie, Aarno, et al.
Publicado: (2013)

Identification of pathogenic variant enriched regions across genes and gene families
por: Pérez-Palma, Eduardo, et al.
Publicado: (2020)

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
por: Lal, Dennis, et al.
Publicado: (2020)

The relation of severe malocclusion to patients’ mental and behavioral disorders, growth, and speech problems
por: Koskela, Anu, et al.
Publicado: (2020)

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma
por: Tanigawa, Yosuke, et al.
Publicado: (2020)

Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure
por: Rämö, Joel T., et al.
Publicado: (2023)

High divergence in primate-specific duplicated regions: Human and chimpanzee Chorionic Gonadotropin Beta genes
por: Hallast, Pille, et al.
Publicado: (2008)

Towards an understanding of genetic predisposition to migraine
por: Anttila, Verneri, et al.
Publicado: (2011)

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
por: Rahikkala, Elisa, et al.
Publicado: (2019)

PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants
por: Bodea, Corneliu A., et al.
Publicado: (2018)

Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants
por: Iqbal, Sumaiya, et al.
Publicado: (2020)

Sodium overload due to a persistent current that attenuates the arrhythmogenic potential of a novel LQT3 mutation
por: Moreau, Adrien, et al.
Publicado: (2013)

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel
por: Mitt, Mario, et al.
Publicado: (2017)

Genetic predictors of lifelong medication-use patterns in cardiometabolic diseases
por: Kiiskinen, Tuomo, et al.
Publicado: (2023)

Risk factor studies of age-at-onset in a sample ascertained for Parkinson disease affected sibling pairs: a cautionary tale
por: Wilk, Jemma B, et al.
Publicado: (2007)

A FinnGen pilot clinical recall study for Alzheimer’s disease
por: Julkunen, Valtteri, et al.
Publicado: (2023)

RNAi–Based Functional Profiling of Loci from Blood Lipid Genome-Wide Association Studies Identifies Genes with Cholesterol-Regulatory Function
por: Blattmann, Peter, et al.
Publicado: (2013)

A deaf mother and son with diabetes and renal failure
por: Schanz, Jurik, et al.
Publicado: (2012)

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland
por: Trotta, Luca, et al.
Publicado: (2016)

Association of APOE Haplotypes With Common Age-Related Ocular Diseases in 412,171 Individuals
por: Liuska, Perttu J., et al.
Publicado: (2023)

Genetic architecture of human plasma lipidome and its link to cardiovascular disease
por: Tabassum, Rubina, et al.
Publicado: (2019)

Sleep apnoea is a risk factor for severe COVID-19
por: Strausz, Satu, et al.
Publicado: (2021)

Fine-Scale Genetic Structure in Finland
por: Kerminen, Sini, et al.
Publicado: (2017)

Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom
por: Chheda, Himanshu, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_qm3gdhsl7qcoj6rrd8o2u3a6kl