Author

Daniel Matías-Sánchez

Barcelona Supercomputing CenterORCID 0000-0003-4760-6512Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2

Frequent Co-Authors

Abdelrahman Ahmed Yehia Abdelaziz Saad· 1 shared Albarah El-Khani· 1 shared Anna CarrerasiD· 1 shared Ayesha Al Ali· 1 shared Azza Attia· 1 shared Beatriz CortésiD· 1 shared Cecilia SalvoroiD· 1 shared Cyla Minas· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Abdelrahman Ahmed Yehia Abdelaziz Saad

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicineGenome ResearchPeer-reviewedMar 1, 2026

Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications

Judith Arres, Santosh Elavalli, Shalini Behl…·Javier Quilez

This study evaluates Oxford Nanopore sequencing's performance in clinical genomics using reference samples, showing high accuracy for SNVs and SVs but challenges with INDELs and CNVs.

5 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicsNucleic Acids ResearchPeer-reviewedFeb 9, 2022

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

Jordi Valls-Margarit, Iván Galván‐Femenía, Daniel Matías-Sánchez…·David Torrents

The paper generates a comprehensive haplotype map of the Iberian population using high-coverage whole-genome sequencing, focusing on structural variants and their imputation capabilities.

14 citations

humanwhole-genome sequencing

𝕏 PostBluesky