Etiqueta: #JMedGenet
-
Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohort
Developmental epileptic encephalopathy (DEE) comprises neurodevelopmental disorders with early-onset seizures and developmental impairment. Despite >900 implicated genes, many patients remain undiagnosed after short-read sequencing (SRS). We assess…
-
VHL gene fragment analysis: large inversion detection in Alu region for clinical applications
von Hippel-Lindau (VHL) is an autosomal-dominant tumour susceptibility disorder associated with pathogenic germline variants in the VHL gene that put patients at increased risk of developing benign and malignant tumours within various organs. While cu…
-
VHL gene fragment analysis: large inversion detection in Alu region for clinical applications
von Hippel-Lindau (VHL) is an autosomal-dominant tumour susceptibility disorder associated with pathogenic germline variants in the VHL gene that put patients at increased risk of developing benign and malignant tumours within various organs. While cu…
-
Rare missense variants in MYO7A and OTOP2 genes in a South Korean Menieres disease cohort
Background Meniere’s disease (MD) is a polygenic condition defined by episodes of vertigo associated with sensorineural hearing loss and tinnitus. Genetic studies in familial MD in East Asian populations are limited, and the potential MD genes r…
-
Rare missense variants in MYO7A and OTOP2 genes in a South Korean Menieres disease cohort
Background Meniere’s disease (MD) is a polygenic condition defined by episodes of vertigo associated with sensorineural hearing loss and tinnitus. Genetic studies in familial MD in East Asian populations are limited, and the potential MD genes r…
-
Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies
Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal dominant disease genes have been detected across multiple …
-
Test the grandfather! Incidental in-frame DMD deletions in three asymptomatic families
The DMD gene, the largest gene in the human genome, is particularly prone to exonic deletions or duplications due to recombination events during gametogenesis, with frameshift deletions typically seen in Duchenne muscular dystrophy (DMD) and in-frame …
-
Evaluating the efficiency of nanopore adaptive sampling sequencing in detecting balanced translocation
Background Balanced translocation (BT) carriers have a high risk of recurrent miscarriage and abnormal offspring due to unbalanced gamete production. Clinical genetic testing often fails to detect BTs that fall below microscopic resolution or occur in…
-
Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants
Mulibrey nanism is a rare disorder caused by biallelic tripartite motif containing protein 37 (TRIM37) variants and characterised by prenatal onset growth failure, dysmorphic features, restrictive heart disease and predisposition to tumours. TRIM37 ha…
-
Clinically significant DNA variation from the GENCOV and HostSeq COVID-19 genome sequencing studies
Background Vast amounts of genome sequencing data generated from large-scale research studies like HostSeq provide an opportunity to summarise the spectrum of pathogenic variation in a subset of the Canadian population. Sharing variant-level data with…