Categoría: Articulos
-
TTN variants in pediatric cardiomyopathy: a retrospective cohort study
BackgroundTitin (TTN) variants have been implicated in various types of cardiomyopathy. Allelic variant heterogeneity results in variable clinical phenotypes, which remains a major barrier for effective disease management. We aim to investigate the rel…
-
Understanding the Role of Functional Noncoding Variation in Human Diseases with Lessons from Immunity
The advent of next-generation sequencing has expanded our understanding of the genotypic, pathobiological, and phenotypic spectrum of human disease, helping to inform more personalized patient care. Current clinical guidelines are prompting the generat…
-
Transcriptional Regulatory Modulation as a Potential Therapeutic Modality
Numerous human diseases are caused by changes in gene expression levels. In addition, changing the expression levels of specific genes can lead to therapeutic benefits for several diseases. Systems using nuclease-deficient gene-editing proteins fused t…
-
Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers
BackgroundPenetrance of breast cancer (BC) among women who carry pathogenic variants (PVs) in BRCA1 is incomplete, and the age at BC diagnosis varies considerably, even among carriers of the same PV, suggesting the involvement of genetic and non-geneti…
-
ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer
Founder pathogenic variants (PVs) in BRCA1, BRCA2 and PALB2 increase lifetime risk of developing breast (BC), ovarian (OC) and pancreatic (PC) cancer. They have been identified in French-Canadians (FC), a population exhibiting genetic drift due to comm…
-
The SINEs were there: identification of a pathogenic Alu insertion in a patient with DICER1-related tumour predisposition
DICER1-related tumour predisposition (DRTP) is an autosomal dominant disorder marked by increased risk of benign and malignant tumours across multiple organ systems. A genetic diagnosis of DRTP requires identification of a (likely) pathogenic germline …
-
Molecular sleuthing: unmasking hidden lymphomas through plasma DNA sequencing
Diagnosing lymphomas can be challenging, particularly in atypical presentations lacking histological confirmation. We report two cases where next-generation sequencing of plasma cell-free DNA (cfDNA) enabled the early detection of diffuse large B-cell …
-
Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2
Schaaf-Yang syndrome and Prader-Willi syndrome are imprinting disorders that result from the disruption of paternally expressed genes within the 15q11-q13 region. Both conditions present with overlapping clinical features including developmental delay,…
-
Correction: A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome
European Journal of Human Genetics, Published online: 31 March 2026; doi:10.1038/s41431-026-02095-wCorrection: A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X…
-
Short-read genome sequencing at population scale: diagnostic insights from 2317 patients
European Journal of Human Genetics, Published online: 31 March 2026; doi:10.1038/s41431-026-02089-8Short-read genome sequencing at population scale: diagnostic insights from 2317 patients