Sergi Beltrán

Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium

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

Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs

The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.

Comprehensive reanalysis for CNVs in exome sequencing data from unsolved rare disease cases results in new diagnoses

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.

Characterization of the common genetic variation in the Spanish population of Navarre

The paper characterizes common genetic variants in the Navarre population, identifying 1,069 SNVs common in Navarre but rare in other populations.

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

This paper uses multilayer network analysis to identify molecular determinants of severity in Congenital Myasthenic Syndromes by integrating protein-protein interactions, pathways, and metabolomics data.

A unified data infrastructure to support large-scale rare disease research

The paper describes a unified data infrastructure for rare disease research, enabling collaborative analysis of multi-omics data across institutions.

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

The paper introduces the GA4GH Phenopacket schema to standardize the exchange of phenotypic data for precision medicine applications.

VarGenius-HZD allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage

VarGenius-HZD detects rare homozygous and hemizygous deletions in targeted sequencing with higher sensitivity than existing tools.

Framework For Quality Assessment Of Whole Genome, Cancer Sequences

The paper introduces a framework for assessing the quality of whole genome cancer sequences using a star rating system based on five QC measures, providing a tool for researchers to evaluate and exclude low-quality data.

Germline determinants of the somatic mutation landscape in 2,642 cancer genomes

This study identifies germline genetic variants influencing somatic mutation patterns in 2,642 cancer genomes across 39 cancer types.

Comprehensive Molecular Characterization of Mitochondrial Genomes in Human Cancers

This study characterizes mitochondrial genomes in 2,700 cancer patients across 37 types using whole-genome sequencing and RNA-seq, revealing mutational patterns, truncating mutations, and nuclear transfer of mitochondrial DNA.