Curriculum Vitae
I am a genomics data and bioinformatics leader with 15+ years of experience across clinical genomics, computational biology, and sequencing technology development, with a proven track record leading cross-functional teams to design and scale cloud-based genomics data platforms supporting clinical diagnostics and research.
Professional Experience
Bioinformatics Scientist III (Team Leader)
- Directed development of scalable, cloud-native workflows for germline variant discovery (SNVs, Indels, CNVs, SVs) using DRAGEN and GATK
- Led migration to DRAGEN-based pipelines on Illumina Cloud Analytics (ICA), improving performance and clinical alignment
- Architected a centralized, access-controlled data platform, replacing distributed multi-bucket storage systems
- Designed structured genomics data models (BigQuery) enabling cohort-level querying and downstream analytics
- Established best practices for reproducibility and cross-program coordination
- Oversaw HIPAA-compliant data governance and cost-optimized storage strategies; mentored team members
Bioinformatics Scientist II
- Developed and deployed genomics workflows in AWS and GCP for sequencing and SNP-array data
- Partnered with research teams to enable scalable data access and analysis
Postdoctoral Research Associate
- Somatic short variant discovery (SNVs and Indels) using GATK pipelines on genomic and transcriptomic data
- Analyzed next- and third-generation sequencing data (RNA-seq) for expression and alternative splicing
- Integrated, visualized, and interpreted transcriptomic data across immunotherapy-relapsed and chemo-resistant samples
- Developed and maintained reproducible data analysis workflows and pipelines
Postdoctoral Fellow
- Developed and optimized Oxford Nanopore long-read sequencing methods for validation of de-novo and artefactual isoforms
- Functionally characterized splicing-derived isoforms using CRISPR-Cas9 and antisense-oligo splice switching in in-vitro and in-vivo models
- Implemented ChIP protocols and analyzed ChIP-seq data supporting mechanistic studies of splicing regulation
- Mined RNA-seq data from immune-relapsed samples with in-vitro validation of splicing factors
PhD Researcher
- Identified genetic alterations in members of the MYC axis in lung carcinomas
- Characterized their role in deregulating chromatin-remodeling complexes and oncogenic transcriptional programs
- Modeled therapeutic opportunities in vitro and in vivo based on synthetic-lethality studies
- Analyzed WES, RNA-seq, ChIP-seq, and microarray expression data
Education
PhD, Biomedicine
University of Barcelona, 2018
MSc, Advanced Genetics
Autonomous University of Barcelona, 2012
BSc, Molecular Biology
University of Santiago de Compostela, 2011
Technical Skills
Sequencing & Genomics
Illumina (WGS, WES, SNP arrays, RNA-seq, ChIP-seq), Oxford Nanopore long-read sequencing, variant discovery (SNVs, Indels, CNVs, SVs)
Bioinformatics Tools
GATK, DRAGEN, BWA, Bowtie, STAR, Snakemake, Nextflow, WDL, rMATS, MAJIQ, DESeq2, Minimap2, Flair, HOMER, MACS2
Programming & Data
Python, R, Bash, SQL (BigQuery, Presto, AWS Athena)
Cloud & Infrastructure
AWS, GCP, Illumina Cloud Analytics (ICA), HIPAA-compliant data governance
Selected Presentations
- ASHG Annual Meeting (2024)
- Torres-Diz M, Reglero-Gomez C, et al. — ASH Annual Meeting (2022): "Non-canonical exon usage in pediatric leukemia: implications for chemoresistance"
- Torres-Diz M — Catalyzing Cures for Children with Cancer, FusOnC2 & PI-DDN Joint Meeting (2021): "Non-canonical exon usage in pediatric leukemia: implications for chemoresistance"
- Llabata P, Torres-Diz M, et al. — IASLC (2019): "DNA-Binding and Gene Expression Profiles in Max Deficient Small Cell Lung Cancer"
- Llabata P, Torres-Diz M, et al. — IASLC (2017): "MGA Suppresses the MYC Pathway in Lung Adenocarcinoma"
- Romero OA, Torres-Diz M, et al. — AACR Annual Meeting (2014): "MAX Inactivation in Small Cell Lung Cancer Disrupts the MYC-SWI/SNF Programs and Is Synthetic Lethal with BRG1"
- Torres-Diz M, Romero OA, et al. — 14th International Congress Aseica (2013): "Involvement of MAX in Small Cell Lung Cancer Development"
Publications
My peer-reviewed research record is listed in full on the Publications page →