Álvaro Martínez Barrio

The paper introduces PNA, a DNA-based method to map protein organization and interactions in single cells, revealing abundance, clustering, and colocalization relationships.

This paper expands genome benchmarking to include difficult-to-map regions using linked and long reads, identifying more false negatives in variant calling.

The paper develops a diploid assembly-based benchmark for variants in the MHC region using HG002 data, identifying 21496 small variants with high concordance to clinical HLA types.

scHLAcount computes allele-specific HLA expression from single-cell RNA-seq data, revealing cell-type and tumor-normal differences in allelic patterns.

Genome in a Bottle benchmark of 12745 sequence-resolved insertions and deletions of 50 bp or more, integrating 19 calling methods, scores false negatives and false positives alike.

This paper introduces Linked-Reads as a method to comprehensively analyze genome variation, showing it can detect both small and large variants and reconstruct haplotypes more effectively than short-read sequencing.