The Vall d'Hebron Research Institute (VHIR) has recently participated in a study that has helped define the way in which sequencing data will be used for the diagnosis of cancers associated with variants of the ATM gene. The results of this work, called "A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients", have been published by the renowned journal Clinical Chemistry.Genetic variants of the ATM gene, which encodes the protein involved in regulating the control of cell division and in repairing the damage suffered by the DNA molecule, are associated with different levels of cancer risk. The genetic diagnosis of these hereditary cancers has changed over the last decade thanks to the introduction of sequencing technologies that allow the screening of multiple genes directly. However, the identification, the classification and the interpretation of ATM gene variants have yet to be optimized to be of great help in the clinical context. This is why the Spanish group for the interpretation of hereditary cancer gene variants began a collaborative effort with the aim of improving and standardizing this classification of variants for the ATM gene.Six independent laboratories collected information on 766 carriers of ATM variants. The data collected was extensively revised to adapt the existing international criteria of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) to this gene. An additional positive aspect of this effort was the new classification of fifty variants, which resulted in a significant reduction (from 58% to 42%) in the number of uncertain variants.This study has involved an interdisciplinary collaboration to define the way in which the different types of available evidence have to be weighed, from functional tests to computational evidence. The VHIR research group on Clinical and Translational Bioinformatics, headed by Dr. Xavier de la Cruz, has been in charge of this last aspect, determining the most suitable predictors of pathogenicity for this task.To carry out this part of the project, "we calibrated the predictive capacity of these tools in a set of variants known by the ATM". "The rules presented in this work are of immediate application and represent an advance in our ability to use sequencing results for medical applications in which the clinical evidence is not always conclusive", point out Dr. De la Cruz and Luz Marina Porras, doctoral student of the research group and participant of the project.The conclusions derived from this study will be of great help for the clinical context when diagnosing this type of cancer. In fact, the researchers consider that this project "will affect the reproducibility of medical conclusions, increase the value of the evidence in the diagnosis of hereditary cancers and facilitate a faster diagnosis of the disease".