Alex Salazar

Fine-mapping HLA-II haplotypes in Alzheimer's disease and healthy longevity reveals distinct associations with microglial HLA-II load and neuropathology

Increased burden of endogenous viral elements in Alzheimer's Disease compared to cognitively healthy centenarians

This study compares endogenous viral elements in Alzheimer's Disease patients and cognitively healthy centenarians using long-read sequencing, finding higher EVE burden in AD patients.

snpXplorer: haplotype-block representation of GWAS signals for integrated variant and cross-trait interpretation

Long-read sequencing reveals hidden structural complexity within Alzheimers disease-associated GWAS loci

The paper uses long-read sequencing to uncover structural complexity in Alzheimer's disease GWAS loci, showing that lead SNPs often miss key regulatory variants.

TMEM106B haplotypes show distinct associations with tau and TDP-43 pathologies in the aging brain

The paper examines TMEM106B haplotypes and their associations with tau and TDP-43 pathologies in aging brains using integrated multi-omics data.

MotifScope: a multi-sample motif discovery and visualization tool for tandem repeats

MotifScope identifies and visualizes tandem repeats in population context using a de novo k-mer approach, outperforming existing tools in motif discovery and representation.

Cognitively healthy centenarians are characterized by lower frequencies of six disease-associated HLA alleles

The paper identifies six HLA alleles associated with reduced likelihood of becoming a cognitively healthy centenarian, revealing pleiotropic effects on disease susceptibility and longevity.

Fine-mapping reveals four TMEM106B haplotypes associated with neurodegenerative risk and preserved cognition at extreme age

Characterising tandem repeat complexities across long-read sequencing platforms with TREAT and otter

The paper introduces otter and TREAT for accurate tandem repeat genotyping across long-read sequencing platforms, showing improved accuracy and identifying pathogenic expansions and disease associations.

An AluYb8 retrotransposon characterises a risk haplotype of TMEM106B associated in neurodegeneration

The paper identifies an AluYb8 retrotransposon in a TMEM106B risk haplotype associated with neurodegeneration, linking it to age-related dysregulation and population-specific disease risk.

Nanopore sequencing and comparative genome analysis confirm lager-brewing yeasts originated from a single hybridization

The paper uses nanopore sequencing and a new method to show lager-brewing yeasts originated from a single hybridization event, with Group 1 and 2 strains diverging after this event.

Alpaca: a kmer-based approach for investigating mosaic structures in microbial genomes

Alpaca identifies mosaic structures in microbial genomes by analyzing kmer similarity across sequencing datasets to map evolutionary origins.

Nanopore sequencing enables near-complete de novo assembly of Saccharomyces cerevisiae reference strain CEN.PK113-7D

This paper presents a near-complete genome assembly of Saccharomyces cerevisiae strain CEN.PK113-7D using Nanopore sequencing, revealing new genes and a chromosomal translocation.