Wan‐Ping Lee
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View article: Genome‐wide association studies of TDP‐43 proteinopathy and hippocampal sclerosis reveal shared genetic associations with APOE and TMEM106B
Genome‐wide association studies of TDP‐43 proteinopathy and hippocampal sclerosis reveal shared genetic associations with APOE and TMEM106B Open
INTRODUCTION Transactive response DNA binding protein 43 kDa (TDP‐43) proteinopathy has been linked to cognitive decline and often co‐occurs with hippocampal sclerosis (HS). To identify genetic markers of TDP‐43 proteinopathy and HS, we pe…
View article: Exploring Random Forest in Genetic Risk Score Construction
Exploring Random Forest in Genetic Risk Score Construction Open
Genetic risk scores (GRS) are crucial tools for estimating an individual's genetic liability to various traits and diseases, computed as a weighted sum of trait‐associated allele counts. Traditionally, GRS models assume additive, linear ef…
View article: GrafAnc: Reliable and reproducible inference of continental and regional population structure
GrafAnc: Reliable and reproducible inference of continental and regional population structure Open
Accurate inference of genetic ancestry is a fundamental step in population genetics, disease association studies, and understanding human history. However, most existing tools, whether model-based or model-free, are limited by dataset-spec…
View article: Mosaic chromosomal alterations in blood are associated with an increased risk of Alzheimer’s disease
Mosaic chromosomal alterations in blood are associated with an increased risk of Alzheimer’s disease Open
Mosaic chromosomal alterations (mCAs) in blood, a form of clonal hematopoiesis, have been linked to various diseases, but their role in Alzheimer’s disease (AD) remains unclear. We analyzed blood whole-genome sequencing (WGS) data from 24,…
View article: NIAGADS: A data repository for Alzheimer's disease and related dementia genomics
NIAGADS: A data repository for Alzheimer's disease and related dementia genomics Open
The National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site (NIAGADS) is the National Institute on Aging–designated national data repository for human genetics research on Alzheimer's disease and related dementias (AD…
View article: Structural variation detection and association analysis of whole‐genome‐sequence data from 16,543 Alzheimer's disease sequencing project subjects
Structural variation detection and association analysis of whole‐genome‐sequence data from 16,543 Alzheimer's disease sequencing project subjects Open
INTRODUCTION The role of structural variations (SVs) in Alzheimer's disease (AD) remains understudied. METHODS We analyzed whole‐genome sequencing data from the Alzheimer's Disease Sequencing Project ( N = 16,543) and identified 400,234 (1…
View article: Alzheimer's Disease Sequencing Project release 4 whole genome sequencing dataset
Alzheimer's Disease Sequencing Project release 4 whole genome sequencing dataset Open
INTRODUCTION The Alzheimer's Disease Sequencing Project (ADSP) is a national initiative to understand the genetic architecture of Alzheimer's disease and related dementias (ADRD) by integrating whole genome sequencing (WGS) with other gene…
View article: Copy Number Variation and Haplotype Analysis of <scp>17q21.31</scp> Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells
Copy Number Variation and Haplotype Analysis of <span>17q21.31</span> Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells Open
Background The 17q21.31 region with various structural forms characterized by the H1/H2 haplotypes and three large copy number variations (CNVs) represents the strongest risk locus in progressive supranuclear palsy (PSP). Objective To inve…
View article: Alzheimer’s Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset
Alzheimer’s Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset Open
The Alzheimer’s Disease Sequencing Project (ADSP) is a national initiative to understand the genetic architecture of Alzheimer’s Disease and Related Dementias (AD/ADRD) by sequencing whole genomes of affected participants and age-matched c…
View article: Genomic Frontiers in Alzheimer’s Research: A Primer on the Alzheimer’s Disease Sequencing Project (ADSP) and its AI/ML Opportunities
Genomic Frontiers in Alzheimer’s Research: A Primer on the Alzheimer’s Disease Sequencing Project (ADSP) and its AI/ML Opportunities Open
Background In this introductory talk, we embark on a journey of through the genomic frontiers of Alzheimer’s research via the revolutionary Alzheimer’s Disease Sequencing Project (ADSP). Method ADSP integrates together various components t…
View article: ADSP Whole Genome Sequencing (WGS) Release 5 data update from Genome Center for Alzheimer’s Disease
ADSP Whole Genome Sequencing (WGS) Release 5 data update from Genome Center for Alzheimer’s Disease Open
Background The Genome Center for Alzheimer’s Disease (GCAD) coordinates the integration and meta‐analysis of all available Alzheimer’s disease (AD) relevant whole genome sequencing (WGS) data to facilitate the goal of identifying AD risk o…
View article: Exploring the coding rare variants in Alzheimer’s disease
Exploring the coding rare variants in Alzheimer’s disease Open
Background People leverage single‐variant association test to systematically evaluate common genetic variants (minor allele frequency 0.5% < [MAF) < 5%) for complex disease, such as Alzheimer’s disease (AD). Rare variants (MAF < 1%) could …
View article: NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) AI‐Enhanced Search
NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) AI‐Enhanced Search Open
Background NIAGADS is a national data repository that offers qualified investigators access to genomic data for Alzheimer’s disease (AD) and related dementia. In addition, NIAGADS has made substantial effort to curate, harmonize, standardi…
View article: Asian Cohort for Alzheimer’s Disease (ACAD) Study on Genetic and Non‐Genetic Risk Factors for Alzheimer’s Disease among Asian Americans and Canadians
Asian Cohort for Alzheimer’s Disease (ACAD) Study on Genetic and Non‐Genetic Risk Factors for Alzheimer’s Disease among Asian Americans and Canadians Open
Background Asian Americans and Asian Canadians (ASACs) are the fastest growing minority group in the US and Canada. However, ASACs are under‐sampled in Alzheimer’s disease (AD) research. To address the need of culturally appropriate clinic…
View article: Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and <i>MAPT</i> Sub‐haplotypes
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and <i>MAPT</i> Sub‐haplotypes Open
Background The H1/H2 haplotype on 17q21.31 represent the foremost genetic factor contributing to the risk of progressive supranuclear palsy (PSP). Various structural forms of 17q21.31 characterized by the number of copies of α, β, and γ du…
View article: NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS)
NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) Open
Background NIAGADS is a national genomics data repository that facilitates access of genotypic and sequencing data to qualified investigators for the study of the genetics of Alzheimer’s disease (AD) and related neurological diseases. Coll…
View article: Short tandem repeat expansions are a novel genetic risk factor for Alzheimer’s disease
Short tandem repeat expansions are a novel genetic risk factor for Alzheimer’s disease Open
Background Studies of the genetics of Alzheimer’s disease (AD) have largely focused on single nucleotide variants and short insertions/deletions. However, much of the disease heritability has yet to be uncovered, suggesting that other form…
View article: CNV-Profile Regression: A New Approach for Copy Number Variant Association Analysis in Whole Genome Sequencing Data
CNV-Profile Regression: A New Approach for Copy Number Variant Association Analysis in Whole Genome Sequencing Data Open
Copy number variants (CNVs) are DNA gains or losses involving >50 base pairs. Assessing CNV effects on disease risk requires consideration of several factors. First, there are no natural definitions for CNV loci. Second, CNV effects can de…
View article: Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole‐genome sequencing from the Alzheimer's Disease Sequencing Project
Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole‐genome sequencing from the Alzheimer's Disease Sequencing Project Open
INTRODUCTION Alzheimer's disease (AD) is a common disorder of the elderly that is both highly heritable and genetically heterogeneous. METHODS We investigated the association of AD with both common variants and aggregates of rare coding an…
View article: NIAGADS: A Comprehensive National Data Repository for Alzheimer’s Disease and Related Dementia Genetics and Genomics Research
NIAGADS: A Comprehensive National Data Repository for Alzheimer’s Disease and Related Dementia Genetics and Genomics Research Open
NIAGADS is the National Institute on Aging (NIA) designated national data repository for human genetics research on Alzheimer’s Disease and related dementia (ADRD). NIAGADS maintains a high-quality data collection for ADRD genetic/genomic …
View article: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy Open
Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP…
View article: A Specialized Reference Panel with Structural Variants Integration for Improving Genotype Imputation in Alzheimer’s Disease and Related Dementias (ADRD)
A Specialized Reference Panel with Structural Variants Integration for Improving Genotype Imputation in Alzheimer’s Disease and Related Dementias (ADRD) Open
Summary We developed an imputation panel for Alzheimer’s disease (AD) and related dementias (ADRD) using whole-genome sequencing (WGS) data from the Alzheimer’s Disease Sequencing Project (ADSP). Recognizing the significant associations be…