Walter Santana-Garcia

Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project

The paper uses long-read sequencing to characterize structural variants in 1,019 samples from the 1000 Genomes Project, identifying 167,291 sequence-resolved SVs and highlighting their genomic and functional implications.

Nanopore duplex sequencing reveals patterns of asymmetric states of 5hmC and 5mC in the medaka brain genome

The paper uses Nanopore duplex sequencing to analyze 5hmC and 5mC distribution in medaka brain DNA, revealing strand-specific patterns in CpG dinucleotides.

Representing Transcription Factor Dimer Binding Sites Using Forked-Position Weight Matrices and Forked-Sequence Logos

The paper introduces forkedTF, a tool to create FPWM and F-Logos for modeling TF dimer binding sites, and provides precomputed resources in MethMotif 2024.

RSAT Var-tools: an accessible and flexible framework to predict the impact of regulatory variants on transcription factor binding

The paper introduces Var-tools, a framework for predicting the impact of regulatory variants on transcription factor binding, with four case studies demonstrating its functionality.