Cargando…

Identification of rare variants in Alzheimer’s disease

Much progress has been made in recent years in identifying genes involved in the risk of developing Alzheimer’s disease (AD), the most common form of dementia. Yet despite the identification of over 20 disease associated loci, mainly through genome wide association studies (GWAS), a large proportion...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lord, Jenny, Lu, Alexander J., Cruchaga, Carlos
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2014
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4211559/ https://www.ncbi.nlm.nih.gov/pubmed/25389433 http://dx.doi.org/10.3389/fgene.2014.00369

Ejemplares similares

Splicing in the Diagnosis of Rare Disease: Advances and Challenges
por: Lord, Jenny, et al.
Publicado: (2021)

Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants
por: Hoogmartens, Julie, et al.
Publicado: (2021)

Caspase-8, association with Alzheimer’s Disease and functional analysis of rare variants
por: Rehker, Jan, et al.
Publicado: (2017)

Missense variant in TREML2 protects against Alzheimer's disease
por: Benitez, Bruno A., et al.
Publicado: (2014)

Associations between rare microglia-linked Alzheimer's disease risk variants and subcortical brain volumes in young individuals
por: Lancaster, Thomas M.
Publicado: (2019)

Identification of rare thalassemia variants using third-generation sequencing
por: Liu, Qin, et al.
Publicado: (2023)

The Effect of Alzheimer’s Disease-Associated Genetic Variants on Longevity
por: Tesi, Niccolò, et al.
Publicado: (2021)

Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population
por: Read, Robert W., et al.
Publicado: (2021)

Associating rare genetic variants with human diseases
por: Zhang, Qunyuan
Publicado: (2015)

Detection and Impact of Rare Regulatory Variants in Human Disease
por: Li, Xin, et al.
Publicado: (2013)

Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect
por: Xie, Huilin, et al.
Publicado: (2019)

Immunity gene IFITM3 variant: Relation to cognition and Alzheimer's disease pathology
por: Pyun, Jung‐Min, et al.
Publicado: (2022)

Copy Number Variation Identification on 3,800 Alzheimer’s Disease Whole Genome Sequencing Data from the Alzheimer’s Disease Sequencing Project
por: Lee, Wan-Ping, et al.
Publicado: (2021)

Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis
por: Kristan, Aleša, et al.
Publicado: (2021)

Identification of Alzheimer's Disease-Related Genes Based on Data Integration Method
por: Hu, Yang, et al.
Publicado: (2019)

Alzheimer's disease genetic risk variants beyond APOE ε4 predict mortality
por: Mez, Jesse, et al.
Publicado: (2017)

A Machine Learning Method to Identify Genetic Variants Potentially Associated With Alzheimer’s Disease
por: Monk, Bradley, et al.
Publicado: (2021)

Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseases
por: Dong, Zirui, et al.
Publicado: (2022)

Rare copy number variation analysis identifies disease-related variants in atrioventricular septal defect patients
por: Hu, Huan, et al.
Publicado: (2023)

Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease
por: Gallego-Martinez, Alvaro, et al.
Publicado: (2019)

Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity
por: Salum, Kaio Cezar Rodrigues, et al.
Publicado: (2020)

Firth logistic regression for rare variant association tests
por: Wang, Xuefeng
Publicado: (2014)

Learning the kernel for rare variant genetic association test
por: Falk, Isak, et al.
Publicado: (2023)

Genomic Diversity Evaluation of Populus trichocarpa Germplasm for Rare Variant Genetic Association Studies
por: Piot, Anthony, et al.
Publicado: (2020)

Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants
por: Ferese, Rosangela, et al.
Publicado: (2021)

The Epigenetics of Alzheimer’s Disease: Factors and Therapeutic Implications
por: Liu, Xiaolei, et al.
Publicado: (2018)

ABCA7 p.G215S as potential protective factor for Alzheimer's disease
por: Sassi, Celeste, et al.
Publicado: (2016)

ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants
por: Hu, Fang-Yuan, et al.
Publicado: (2019)

Evaluating the impact of genotype errors on rare variant tests of association
por: Cook, Kaitlyn, et al.
Publicado: (2014)

Capture Sequencing to Explore and Map Rare Casein Variants in Goats
por: Rahmatalla, Siham A., et al.
Publicado: (2021)

Rare CYLD Variants in Chinese Patients With Amyotrophic Lateral Sclerosis
por: Gu, Xiaojing, et al.
Publicado: (2021)

Imputation Performance in Latin American Populations: Improving Rare Variants Representation With the Inclusion of Native American Genomes
por: Jiménez-Kaufmann, Andrés, et al.
Publicado: (2022)

Recent advances and challenges of rare variant association analysis in the biobank sequencing era
por: Chen, Wenan, et al.
Publicado: (2022)

Machine learning methods applied to genotyping data capture interactions between single nucleotide variants in late onset Alzheimer's disease
por: Arnal Segura, Magdalena, et al.
Publicado: (2022)

Identification of two rare NPRL3 variants in two Chinese families with familial focal epilepsy with variable foci 3: NGS analysis with literature review
por: Hu, Junji, et al.
Publicado: (2023)

Ontology Specific Alternative Splicing Changes in Alzheimer’s Disease
por: Lu, Yanjun, et al.
Publicado: (2022)

Perthes Disease in a Child With Osteogenesis Imperfecta From a Rare Genetic Variant: A Case Report
por: Hong, Pan, et al.
Publicado: (2022)

k-Skip-n-Gram-RF: A Random Forest Based Method for Alzheimer's Disease Protein Identification
por: Xu, Lei, et al.
Publicado: (2019)

Penalized regression approaches to testing for quantitative trait-rare variant association
por: Kim, Sunkyung, et al.
Publicado: (2014)

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
por: Vallania, Francesco, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_1jicks37plj3qu7mish74b3uc9