Author

Rocío Núñez‐Torres

Spanish National Cancer Research CentreORCID 0000-0003-1752-2756Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2

Frequent Co-Authors

Alison M. DunningiD· 2 shared Andreas HadjisavvasiD· 2 shared Anna González‐NeiraiD· 2 shared Caroline Baynes· 2 shared Craig LuccariniiD· 2 shared Jenny C. Chang-ClaudeiD· 2 shared Jingmei LiiD· 2 shared Joe DennisiD· 2 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alison M. DunningORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedMay 24, 2025

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

Maria Zanti, Denise G O'Mahony, Michael T. Parsons…·Gary Zirpoli

The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.

11 citationstop 2%

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintJun 17, 2022

Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk.

Naomi Wilcox, Martine Dumont, Anna González‐Neira…·Jacques Simard

The paper uses whole-exome sequencing data to identify novel breast cancer susceptibility genes and assess the contribution of coding variants to breast cancer risk.

1 citation

humanwhole-exome sequencing

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