tgex software (LifeMap Sciences)
90
Structured Review
LifeMap Sciences
tgex software
Tgex Software, supplied by LifeMap Sciences, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/variant+classification+program/tgex+software/pmc11666500-54-8-10
Average 90 stars, based on 1 article reviews
Tgex Software, supplied by LifeMap Sciences, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/variant+classification+program/tgex+software/pmc11666500-54-8-10
Average 90 stars, based on 1 article reviews
tgex software - by Bioz Stars,
2026-11
90/100 stars
Images
Related Articles
Software:Article Title: Whole-exome sequencing identified a novel heterozygous variant in UBAP2L in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnormalities, and dysmorphic facies Article Snippet: .. Annotation and classification of variants were performed using Article Title: The Genetics of 241 Fetuses With Talipes Equinovarus: A 8-Year Monocentric Retrospective Study. Article Snippet: .. SNVs and indels were annotated and prioritized using Article Title: Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation Article Snippet: .. DRAGEN (Dynamic Read Analysis for GENomics) (Illumina, Inc., San Diego, CA, USA) and the Article Title: Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients Article Snippet: .. 1% in public databases (such as the 1,000 Genomes Project, Genome Aggregation Database, Exome Sequencing Project and ExAC) and our internal database, we used the Article Title: Identification of a novel FERMT1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients Article Snippet: .. Utilizing Article Title: Identification of a novel FERMT1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients Article Snippet: .. Variant calling and annotation were performed using the Genome Analysis Toolkit (GATK), followed by further annotation refinement and variant prioritization with Article Title: Whole-exome sequencing identified a novel heterozygous variant in UBAP2L in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnormalities, and dysmorphic facies Article Snippet: .. Using other:Article Title: Diagnosis of a patient with severe sensorineural hearing loss as the initial symptom caused by novel compound heterozygous variant in SLA19A2 gene. Article Snippet: Objective: Thiamine-Responsive Megaloblastic Anemia (TRMA) syndrome, caused by biallelic variants in the SLC19A2 gene, typically presents with a triad of megaloblastic anemia, diabetes mellitus, and sensorineural hearing loss.. This study aims to determine the genetic etiology and clinical phenotype of a patient who presented with severe sensorineural hearing loss as the initial symptom, and to expand our understanding of the SLC19A2 variant spectrum.. Methods: Proband-only whole-exome sequencing was performed to screen the candidate variants, which were subsequently validated by Sanger sequencing within the family. cDNA sequencing based on RT-PCR and TA cloning analysis was used to determine the effect of splicing variants on mRNA processing of SLC19A2 gene. Variant Assay:Article Title: Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation Article Snippet: .. DRAGEN (Dynamic Read Analysis for GENomics) (Illumina, Inc., San Diego, CA, USA) and the Article Title: Identification of a novel FERMT1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients Article Snippet: .. Variant calling and annotation were performed using the Genome Analysis Toolkit (GATK), followed by further annotation refinement and variant prioritization with Sequencing:Article Title: Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients Article Snippet: .. 1% in public databases (such as the 1,000 Genomes Project, Genome Aggregation Database, Exome Sequencing Project and ExAC) and our internal database, we used the |