[HTML][HTML] Open-source bioinformatic pipeline to improve PMS2 genetic testing using short-read NGS data
E Munté, L Feliubadaló, J Del Valle, S González… - The Journal of Molecular …, 2024 - Elsevier
The molecular diagnosis of MMR-deficient cancer syndromes is hampered by difficulties in
sequencing the PMS2 gene mainly due to the PMS2CL pseudogene. Next-generation …
sequencing the PMS2 gene mainly due to the PMS2CL pseudogene. Next-generation …
Tumor analysis of MMR genes in Lynch‐like syndrome: Challenges associated with results interpretation
P Rofes, N Dueñas, J Del Valle, M Navarro… - Cancer …, 2024 - Wiley Online Library
Background Up to 70% of suspected Lynch syndrome patients harboring MMR deficient
tumors lack identifiable germline pathogenic variants in MMR genes, being referred to as …
tumors lack identifiable germline pathogenic variants in MMR genes, being referred to as …
Tumor analysis of MMR genes in Lynch-like syndrome: challenges associated to results interpretation
M Pineda, P Rofes, N Dueñas, J del Valle, M Navarro… - 2023 - researchsquare.com
Up to 70% of suspected Lynch syndrome patients harboring MMR deficient tumors lack
identifiable germline pathogenic variants in MMR genes, being referred to as Lynch-like …
identifiable germline pathogenic variants in MMR genes, being referred to as Lynch-like …