sophia ddm software v6 4 (Sophia Genetics)
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sophia ddm software v6 4
Sophia Ddm Software V6 4, supplied by Sophia Genetics, used in various techniques. Bioz Stars score: 97/100, based on 775 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/execution+platform/SOPHiA+DDM/pmc12652659-195-8-8
Average 97 stars, based on 775 article reviews
Sophia Ddm Software V6 4, supplied by Sophia Genetics, used in various techniques. Bioz Stars score: 97/100, based on 775 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/execution+platform/SOPHiA+DDM/pmc12652659-195-8-8
Average 97 stars, based on 775 article reviews
sophia ddm software v6 4 - by Bioz Stars,
2026-11
97/100 stars
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Analysis:Article Title: Genomic, clinical, and radiological characterization of spontaneous cervical artery dissections: Findings from a single-center cohort. Article Snippet: Introduction: The pathogenesis of spontaneous cervical artery dissection (sCeAD) remains incompletely understood.. In this study, we performed a comprehensive clinical and radiological characterization of sCeAD patients and investigated rare variants in genes associated with vascular fragility using next-generation sequencing Article Title: OPHN1-related neurodevelopmental disorders: clinical and genetic findings with novel variants. Article Snippet: Extended author information available on the last page of the article Abstract Pathogenic variants in the OPHN1 gene are associated with X-linked intellectual developmental disorder, Billuart type (OMIM #300486), characterized by intellectual disability, distinctive facial features, cerebellar abnormalities, ventriculomegaly, epilepsy, and variable neuropsychiatric manifestations.. In this study, four male individuals from four unrelated families presenting with intellectual disability and developmental delay were evaluated.. Comprehensive clinical, neuroimaging, and molecular genetic data were collected. Article Title: MYLK c.4079G>A, p.(Gly1360Asp) Variant Associated With Hereditary Thoracic Aortic Diseases and Early Onset Aortic Dissection. Article Snippet: Libraries were prepared using a capture-based method (Sophia Genetics WES v2) and sequenced on an Illumina NextSeq 2000 sequencer using 2 × 150 bp pairedend sequencing. .. Article Title: Genetic spectrum and genotype-phenotype associations in Paget's disease of bone: A nationwide multicenter study from Türkiye. Article Snippet: Background.. Paget's disease of bone (PDB) is most prevalent in populations of North-western European ancestry and relatively rare in Middle-Eastern and Asian populations, where the genetic architecture and clinical phenotype are poorly characterized.. The aim of this study was to determine, in patients diagnosed with PDB in Turkey, the frequency of SQSTM1 and other associated gene variants, the genotype-phenotype relationship and treatment response, in a multicenter, nationwide setting. Next-Generation Sequencing:Article Title: Clonal hematopoiesis is associated with adverse events in patients with high-grade carotid artery stenosis. Article Snippet: .. Patients and methods: Next-generation sequencing (NGS) involving 30 genes implicated in CH was used as Article Title: Genetic spectrum and genotype-phenotype associations in Paget's disease of bone: A nationwide multicenter study from Türkiye. Article Snippet: Background.. Paget's disease of bone (PDB) is most prevalent in populations of North-western European ancestry and relatively rare in Middle-Eastern and Asian populations, where the genetic architecture and clinical phenotype are poorly characterized.. The aim of this study was to determine, in patients diagnosed with PDB in Turkey, the frequency of SQSTM1 and other associated gene variants, the genotype-phenotype relationship and treatment response, in a multicenter, nationwide setting. Diagnostic Assay:Article Title: Clonal hematopoiesis is associated with adverse events in patients with high-grade carotid artery stenosis. Article Snippet: .. Patients and methods: Next-generation sequencing (NGS) involving 30 genes implicated in CH was used as Sequencing:Article Title: OPHN1-related neurodevelopmental disorders: clinical and genetic findings with novel variants. Article Snippet: Extended author information available on the last page of the article Abstract Pathogenic variants in the OPHN1 gene are associated with X-linked intellectual developmental disorder, Billuart type (OMIM #300486), characterized by intellectual disability, distinctive facial features, cerebellar abnormalities, ventriculomegaly, epilepsy, and variable neuropsychiatric manifestations.. In this study, four male individuals from four unrelated families presenting with intellectual disability and developmental delay were evaluated.. Comprehensive clinical, neuroimaging, and molecular genetic data were collected. Article Title: Genetic spectrum and genotype-phenotype associations in Paget's disease of bone: A nationwide multicenter study from Türkiye. Article Snippet: Background.. Paget's disease of bone (PDB) is most prevalent in populations of North-western European ancestry and relatively rare in Middle-Eastern and Asian populations, where the genetic architecture and clinical phenotype are poorly characterized.. The aim of this study was to determine, in patients diagnosed with PDB in Turkey, the frequency of SQSTM1 and other associated gene variants, the genotype-phenotype relationship and treatment response, in a multicenter, nationwide setting. |
