Rare Variant Aggregation in 148,508 Exomes Identifies Genes Associated with Proxy Alzheimer's disease/Dementia

DP Wightman, JE Savage, CA de Leeuw, IE Jansen… - medRxiv, 2021 - medrxiv.org
Proxy phenotypes allow for the utilization of genetic data from large population cohorts to
analyze late-onset diseases by using parental diagnoses as a proxy for genetic disease risk …

[HTML][HTML] Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia

DP Wightman, JE Savage, CA de Leeuw, IE Jansen… - Scientific reports, 2023 - nature.com
Proxy phenotypes allow for the utilization of genetic data from large population cohorts to
analyze late-onset diseases by using parental diagnoses as a proxy for genetic disease risk …

Whole-exome sequencing study identifies genes associated with Alzheimer's disease and related dementias

XR Gao, M Chiariglione, AJ Arch - medRxiv, 2022 - medrxiv.org
Alzheimer's disease (AD) is the most common form of late-onset neurodegenerative
disease. Previous genome-wide association studies have identified numerous common …

[HTML][HTML] Association of Common and Rare Variants with Alzheimer's Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer's …

WP Lee, SH Choi, MG Shea, PL Cheng, BA Dombroski… - medRxiv, 2023 - ncbi.nlm.nih.gov
Alzheimer's Disease (AD) is a common disorder of the elderly that is both highly heritable
and genetically heterogeneous. Here, we investigated the association between AD and both …

Analysis of high‐risk pedigrees identifies 11 candidate variants for Alzheimer's disease

CC Teerlink, JB Miller, EL Vance… - Alzheimer's & …, 2022 - Wiley Online Library
Introduction Analysis of sequence data in high‐risk pedigrees is a powerful approach to
detect rare predisposition variants. Methods Rare, shared candidate predisposition variants …

Studying Alzheimer's disease using the next generation

DP Wightman - 2024 - research.vu.nl
Alzheimer's disease (AD) is a prevalent and hugely impactful disease affecting millions.
Despite the large public health impact, only two pharmacological treatments have been …

[引用][C] P1‐045: EXOME ARRAY ANALYSIS IDENTIFIES NOVEL RISK VARIANTS FOR ALZHEIMER'S DISEASE WITH ONSET BEFORE 65 YEARS

AC Naj, C Cruchaga, BW Kunkle… - Alzheimer's & …, 2014 - Wiley Online Library
Background Alzheimer disease (AD) is a neurodegenerative disease with a common late-
onset (LOAD) subtype and a less frequent, typically familial early-onset (EOAD) subtype …

Pooled-DNA sequencing for elucidating new genomic risk factors, rare variants underlying Alzheimer's disease

SC Jin, BA Benitez, Y Deming, C Cruchaga - Systems Biology of …, 2016 - Springer
Analyses of genome-wide association studies (GWAS) for complex disorders usually identify
common variants with a relatively small effect size that only explain a small proportion of …

Association of rare coding mutations with Alzheimer disease and other dementias among adults of European ancestry

D Patel, J Mez, BN Vardarajan, L Staley… - JAMA network …, 2019 - jamanetwork.com
Importance Some of the unexplained heritability of Alzheimer disease (AD) may be due to
rare variants whose effects are not captured in genome-wide association studies because …

[引用][C] DT‐02‐02: Low‐frequency variant imputation identifies rare variant candidate loci in a gwas of late‐onset Alzheimer's disease in the igap consortium

BW Kunkle, B Grenier-Boley, M Vronskaya… - Alzheimer's & …, 2015 - Wiley Online Library
Background The largest Alzheimer disease (AD) Genome-wide Association Studies (GWAS)
to date, conducted by the International Genomics of Alzheimer's Project (IGAP) in 2013 …