Categoría: Articulos
-
Turning up protein production: A new genetic approach to polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney failure. Despite decades of research, treatment options for the disease remain limited, and many patients ultimately require dialysis or kidney transplant…
-
Turning up protein production: A new genetic approach to polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney failure. Despite decades of research, treatment options for the disease remain limited, and many patients ultimately require dialysis or kidney transplant…
-
Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes
Analysis of germline and somatic cancer variants across 40 tumor suppressor genes (TSGs) revealed
-
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium
Using RNA and mESC functional analyses of 166 BRCA1 exon 18 variants, this ENIGMA study defines evidence-based thresholds for interpreting variants that induce skipping of this in-frame exon. The findings demonstrate that exon 18 skipping is poorly tol…
-
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
Cheng et al. introduce IsoRanker, a long-read transcriptome sequencing-based framework that prioritizes functionally relevant variants by detecting genes and isoforms with outlier expression, allelic imbalance, and/or nonsense-mediated decay (NMD). App…
-
Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics
Background Next-generation sequencing of cancer predisposition genes is routinely used in hereditary cancer diagnostics. However, a substantial fraction of detected variants remains clinically unresolved. Using a customised 77-gene panel, we analysed …
-
Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes
Breast cancer risk after ovarian cancer in germline BRCA1/2 heterozygotes remains uncertain, with a recent large multicentre international study reporting lower-than-expected incidence in the first decade after ovarian cancer diagnosis (Apostol et al. …
-
Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics
BackgroundNext-generation sequencing of cancer predisposition genes is routinely used in hereditary cancer diagnostics. However, a substantial fraction of detected variants remains clinically unresolved. Using a customised 77-gene panel, we analysed 21…
-
Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population
Introduction Hearing loss is a common complex multifactorial disease with numerous underlying causes including environmental, trauma and genetics.1 According to the hereditary hearing loss homepage (https://hereditaryhearingloss.org/), 156 non-syndrom…