Short tandem repeats (STRs) are highly polymorphic sequences throughout the human
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …

Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …

Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge
both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) …

Tandem repeat (TR) variation is associated with gene expression changes and numerous
rare monogenic diseases. Although long-read sequencing provides accurate full-length …

Research and medical genomics require comprehensive, scalable methods for the
discovery of novel disease targets, evolutionary drivers and genetic markers with clinical …

Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic
diagnosis of rare and unknown diseases and for identification of actionable cancer drivers …

Background Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant ataxia with
invariable sensory neuropathy originally described in a family with Swedish ancestry …

Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by
parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is …

Current practice in diagnostic genetic testing of the epilepsies | Cairn.info Cairn.info, Matières
à réflexion Cairn.info, Matières à réflexion Aucune suggestion trouvée Compte personnel …

Short tandem repeats (STRs) are abundant and highly mutagenic in the human genome.
Many STR loci have been associated with a range of human genetic disorders. However …