Andrew J. Sharp

The paper identifies new tandem repeat expansion associations with neurodegenerative diseases using large-scale genomic data from diverse populations.

The paper genotypes CNVs from genome sequencing read depth in the UK Biobank and identifies 501 CNVs associated with 1,537 traits.

This study identifies 47 tandem repeat variants associated with 73 traits in 168,554 UK Biobank individuals, highlighting their role in missing heritability.

The paper estimates the frequency of repeat expansion mutations across populations using whole genome sequencing data and finds higher expected prevalence than current reports.

TRGT-denovo accurately detects de novo tandem repeat mutations in family trios, reducing false positives and improving precision compared to genotype-based methods.

The paper identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability through a phenome-wide association study using DNA methylation profiling and UK Biobank data.

This paper introduces a method to detect rare DNA methylation outliers in schizophrenia and finds an increased burden of these outliers in cases compared to controls.

This study identifies 32 traits associated with copy number variation of 38 VNTRs and multicopy genes in a large cohort, suggesting structural variants contribute to missing heritability.

This study identifies how V(D)J recombination in lymphoblastoid cell lines affects genetic data quality in immunoglobulin loci, impacting allele frequency and linkage disequilibrium estimates.

This study performs a meta-analysis of DNA methylation data from Alzheimer's disease patients to identify differentially methylated loci across brain regions and cortex.

The paper identifies VNTRs associated with gene expression and DNA methylation, validates their associations, and links them to human phenotypes through GWAS.

The paper introduces a framework combining long-read sequencing and a new tool to fully characterize haplotype diversity in the human immunoglobulin heavy chain locus, demonstrating high accuracy and scalability.

The paper surveys rare epigenetic variation in 23,116 human genomes, identifies disease-relevant epivariations, and discovers novel CGG expansions linked to folate-sensitive fragile sites.

The paper identifies two methylation-based episignatures in ADNP syndrome but finds limited correlation with clinical phenotypes.

The paper identifies Notch signaling's role in cardiac mesoderm specification, showing it enhances cardiomyocyte differentiation while maintaining an immature state in human pluripotent stem cells.

The paper uses RNA-Seq data from 296 family trios to identify genomic imprinting by analyzing allelic expression and parental haplotypes, finding 45 imprinted genes and one novel imprinted transcript.

The paper identifies de novo epigenetic variations in congenital disorders and shows their impact on gene expression and potential diagnostic relevance.

The paper introduces MEM, a method to identify deletion CNVs in WES and WGS trio data by clustering Mendelian errors, achieving high validation rates and detecting additional de novo deletions and contamination.

The paper identifies environmentally responsive co-regulated networks of DNA methylation variation in human cell types and shows their enrichment for imprinted loci.