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Showing 1–9 of 9 results

Advanced filters: Author: Rosa Ana Risques Clear advanced filters

Sex and smoking bias in the selection of somatic mutations in human bladder

Sex bias and association with smoking history identified in the landscape of driver mutations and clonal expansions in normal human bladder tissue may explain the higher bladder cancer risk in men and smokers.

Ferriol Calvet
Raquel Blanco Martinez-Illescas
Rosa Ana Risques
ResearchOpen Access08 Oct 2025
Nature

Volume: 647, P: 436-444
Correction: Corrigendum: Detecting ultralow-frequency mutations by Duplex Sequencing

Scott R Kennedy
Michael W Schmitt
Lawrence A Loeb
Amendments and Corrections20 Nov 2014
Nature Protocols

Volume: 9, P: 2903
Genetic clonal diversity predicts progression to esophageal adenocarcinoma

Carlo C Maley
Patricia C Galipeau
Brian J Reid
Research26 Mar 2006
Nature Genetics

Volume: 38, P: 468-473
Redefining the Significance of Aneuploidy in the Prognostic Assessment of Colorectal Cancer

Rosa-Ana Risques
Victor Moreno
Miguel A Peinado
Research01 Mar 2001
Laboratory Investigation

Volume: 81, P: 307-315
Telomere-to-telomere assembly of a complete human X chromosome

High-coverage, ultra-long-read nanopore sequencing is used to create a new human genome assembly that improves on the coverage and accuracy of the current reference (GRCh38) and includes the gap-free, telomere-to-telomere sequence of the X chromosome.

Karen H. Miga
Sergey Koren
Adam M. Phillippy
ResearchOpen Access14 Jul 2020
Nature

Volume: 585, P: 79-84
Overall deregulation in gene expression as a novel indicator of tumor aggressiveness in colorectal cancer

Silvia Tórtola
Eugenio Marcuello
Miguel A Peinado
Research03 Aug 1999
Oncogene

Volume: 18, P: 4383-4387
Werner syndrome through the lens of tissue and tumour genomics

Mari Tokita
Scott R. Kennedy
Raymond J. Monnat
ResearchOpen Access25 Aug 2016
Scientific Reports

Volume: 6, P: 1-10
TP53 somatic evolution in cervical liquid-based cytology and blood from individuals with and without ovarian cancer and BRCA1 or BRCA2 germline mutations

Talayeh S. Ghezelayagh
Brendan F. Kohrn
Rosa Ana Risques
Research25 Jun 2024
Oncogene

Volume: 43, P: 2421-2430
Detecting ultralow-frequency mutations by Duplex Sequencing

The high error rate of NGS methods has limited the ability to accurately detect ultra-low-frequency mutations. Duplex Sequencing reduces the error rate of NGS such that a single nucleotide mutation can be detected in >1×10⁷ wild-type nucleotides.

Scott R Kennedy
Michael W Schmitt
Lawrence A Loeb
Protocols09 Oct 2014
Nature Protocols

Volume: 9, P: 2586-2606