Publications by authors named "Abraamyan F"
Background: The phenotypic spectrum of muscle disease ranges widely from elevated creatine kinase (CK) levels in the serum of asymptomatic individuals to progressive muscular dystrophy. Due to overlapping clinical features among muscular dystrophies, the diagnosis of muscle disease is established by molecular genetic tests. Early diagnosis is crucial for the clinical management of symptoms and to mitigate cardiac and musculoskeletal complications.
View Article and Find Full Text PDFSmith-Magenis syndrome is a complex neurobehavioral genetic disorder with a broad phenotypic spectrum. While the etiology of SMS is commonly attributed to one-copy interstitial deletion in the 17p11.2 region (90-95% of cases), variants identified by sequence analysis in have also been reported in 5-10% of cases.
View Article and Find Full Text PDFPurpose: An investigation for the co-occurrence of two unrelated genetic disorders of muscular dystrophy and Prader-Willi syndrome (PWS) (OMIM#176270) using joint whole genome sequencing (WGS).
Methods: Trio WGS joint analysis was performed to investigate the genetic etiology in a proband with PWS, prolonged muscular hypotonia associated hyperCKemia, and early-onset obesity. The parents were unaffected.
Article Synopsis
- Tumors have unique genomic profiles that reveal specific mutations linked to DNA damage and repair processes, but germline genetic variants are often overlooked in this context.
- This study introduces a method to evaluate the significance of germline variants by combining somatic and germline genomic data, helping to reassess those variants in cancer patients with unusual or non-typical cancer traits.
- The integration of clinical criteria, somatic signatures, and tumor immunohistochemistry successfully re-classified variants of uncertain significance in various cancer types, emphasizing the need for a shared database to assess these variants more broadly in cancer research.
Despite genomic sequencing rapidly transforming from being a bench-side tool to a routine procedure in a hospital, there is a noticeable lack of genomic analysis software that supports both clinical and research workflows as well as crowdsourcing. Furthermore, most existing software packages are not forward-compatible in regards to supporting ever-changing diagnostic rules adopted by the genetics community. Regular updates of genomics databases pose challenges for reproducible and traceable automated genetic diagnostics tools.
View Article and Find Full Text PDFArticle Synopsis
- * Current guidelines for assessing germline variants don't adequately incorporate data from tumors, which can be crucial for understanding their significance in cancer cases.
- * The authors present an optimized protocol that utilizes somatic tumor profiling to better evaluate the pathogenicity of germline variants, including details about case selection and key supporting evidence like loss of heterozygosity (LOH).