Anita L. DeStefano

Multiple-testing corrections in case-control studies using identity-by-descent segments

This paper proposes a method to correct for multiple testing in IBD mapping for case-control studies, identifies six genome-wide significant AD risk loci, and shows positive selection can confound results.

Integrating Genetic and Transcriptomic Data to Identify Genes Underlying Obesity Risk Loci

The paper identifies genes associated with obesity risk loci by integrating genetic and transcriptomic data from blood and brain tissues.

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

The paper investigates the association of common and rare variants with Alzheimer's Disease in 13,371 diverse individuals using whole-genome sequencing, identifying significant genetic loci and population-specific associations.

Key variants via Alzheimer's Disease Sequencing Project whole genome sequence data

This study uses whole genome sequence data from the ADSP to identify 17 significant variants in five genomic regions associated with Alzheimer's disease.

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

Data Descriptor: Human whole exome genotype data for Alzheimer's Disease

This paper presents a strategy to jointly analyze 20,504 whole-exome sequencing samples from nine studies, generating high-quality variant calls and addressing batch effects from different capture kits.

RNA-sequencing of human post-mortem hypothalamus and nucleus accumbens identifies expression profiles associated with obesity.

The paper identifies differentially expressed mRNAs and microRNAs in human brain tissues associated with obesity and BMI using RNA sequencing from multiple cohorts.

Exploiting Family History in Aggregation Unit-based Genetic Association Tests

This paper introduces FHAT and FHAT-O methods to incorporate family history in genetic association tests, showing improved power and type I error control in exome-wide analyses of dementia and hypertension.

Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants

Genome-Wide Meta-Analysis of Late-Onset Alzheimer's Disease Using Rare Variant Imputation in 324,809 Subjects Identifies Novel Rare Variant Locus NCK2: The International Genomics of Alzheimer's Project (IGAP)

Quality Control and Integration of Genotypes from Two Calling Pipelines for Whole Genome Sequence Data in the Alzheimer’s Disease Sequencing Project

The paper describes the quality control and integration of genotype calls from two pipelines for whole genome sequencing data in the Alzheimer’s Disease Sequencing Project, resulting in a high-quality consensus dataset.

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer’s disease

This study identifies a haplotype lowering PU.1 expression in myeloid cells that delays Alzheimer’s disease onset by affecting gene expression and function.