Marc Dabad

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

This study sequenced the Draparnaldia genome and transcriptomes, revealing expanded gene families linked to multicellularity and terrestrial adaptations, and its ability to synthesize phytohormones used by land plants.

The paper uses long-read sequencing to generate and compare Y chromosome assemblies across haplogroups and assesses epigenetic modifications in human populations.

The paper introduces a method to identify heterogeneously methylated genomic regions using Nanopore reads by analyzing methylation patterns across multiple loci.

This paper introduces a method to sequence full-length human mitochondrial genomes using Cas9 and long-read sequencing, enabling accurate detection of heteroplasmy and deletion patterns.

DeepMP detects DNA methylation from Nanopore sequencing data using a CNN that combines signals and basecalling errors, outperforming existing methods across multiple datasets.

This study benchmarks somatic mutation calling in cancer genomes, identifying inconsistencies and proposing solutions to improve accuracy.