Detection of gene mutations and gene-gene fusions in circulating cell-free DNA of glioblastoma patients: an avenue for clinically relevant diagnostic analysis.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular oncology"
DOI: 10.1002/1878-0261.13157
Abstract: Glioblastoma (GBM) is the most common type of glioma and is uniformly fatal. Currently, tumour heterogeneity and mutation acquisition are major impedances for tailoring personalized therapy. We collected blood and tumour tissue samples from 25… read more here.
Keywords: dna; mutations gene; gene fusions; gbm patients ... See more keywords
MutaNET: a tool for automated analysis of genomic mutations in gene regulatory networks
Sign Up to like & getrecommendations! Published in 2018 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btx687
Abstract: Summary Mutations in genomic key elements can influence gene expression and function in various ways, and hence greatly contribute to the phenotype. We developed MutaNET to score the impact of individual mutations on gene regulation… read more here.
Keywords: mutations gene; gene regulatory; mutanet; gene ... See more keywords
Compound Heterozygous Mutations in the F7 Gene in 2 Unrelated Families With Congenital Factor VII Deficiency
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000002057
Abstract: Supplemental Digital Content is available in the text. Factor VII (FVII) deficiency is a rare bleeding disorder normally caused by homozygous and compound heterozygous mutations in the F7 gene. Whole-exome sequencing was performed to identify… read more here.
Keywords: mutations gene; compound heterozygous; heterozygous mutations; deficiency ... See more keywords
Identification of Hotspot Mutations in the N Gene of SARS-CoV-2 in Russian Clinical Samples That May Affect the Detection by Reverse Transcription-PCR
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12010147
Abstract: Sensitive and reliable diagnostic test systems based on real-time PCR are of great importance in the fight against the ongoing SARS-CoV-2 pandemic. The genetic variability of the SARS-CoV-2 virus leads to the accumulation of mutations,… read more here.
Keywords: pcr; mutations gene; gene; sars cov ... See more keywords