Jose M. Cabrera-Moreno

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 11 publications

Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection.

Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection.

Journal: European journal of human genetics : EJHG

Published: July 30, 2025

Detection of germline CNVs from gene panel data: benchmarking the state of the art.

Detection of germline CNVs from gene panel data: benchmarking the state of the art.

Journal: Briefings in bioinformatics

Published: June 11, 2024

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

Journal: Database : the journal of biological databases and curation

Published: April 02, 2024

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Journal: Bioinformatics (Oxford, England)

Published: November 07, 2022

Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.

Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.

Journal: The Journal of molecular diagnostics : JMD

Published: May 03, 2021

BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.

BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.

Journal: Genes

Published: December 18, 2020

CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools.

CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools.

Journal: Bioinformatics (Oxford, England)

Published: November 09, 2020

Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.

Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.

Journal: Journal of medical genetics

Published: July 23, 2020

Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.

Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.

Journal: Human mutation

Published: May 22, 2020

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.

Journal: Cancers

Published: February 07, 2020

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.

Journal: European journal of human genetics : EJHG

Published: December 23, 2019

Showing 1-11 of 11

Last Updated: 09/26/2026