Locus-specific databases are the most useful repositories of the sequence information underlying medical genetic conditions and, for this reason, they need our continued support.
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| http://dx.doi.org/10.1038/nrg3011 | DOI Listing |
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Spectrum and genotyping strategies of "dark" genetic matter in germline susceptibility genes of tumor syndromes.
Crit Rev Oncol Hematol
January 2025
Department of Molecular Genetics, The National Tumor Biology Laboratory, National Institute of Oncology, Comprehensive Cancer Center, Ráth György út 7-9, Budapest H-1122, Hungary; Hereditary Tumours Research Group, Eötvös Loránd Research Network, Nagyvárad tér 4, Budapest H-1089, Hungary.
Article Synopsis
- The study highlights that certain mutation types, particularly deep intronic variants, are often neglected despite advancements in genotyping methods, particularly in hereditary cancer syndromes.
- A thorough literature review and analysis of variant databases were conducted to understand and evaluate methods for detecting these specific genetic variations.
- The results indicate that most mutations are sporadic rather than inherited, but there's a strong chance that deep intronic variants have splice effects, demonstrating the need for effective genome sequencing and analytical approaches.
mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south India.
Lancet Reg Health Southeast Asia
August 2024
Division of Pulmonary and Sleep Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Background: Emerging data reveal higher-than-expected prevalence of cystic fibrosis (CF) among non-European populations worldwide including in the Indian subcontinent. Systematic analyses of the mutation profile, and genotype-phenotype correlations among people with CF from south, east, or northeast India have not been reported before. We wanted to identify mutations in people with CF, and highlight novel variants, selective phenotypic correlations, and regional variances within India.
View Article and Find Full Text PDFApproximately 3% of the human genome consists of repetitive elements called tandem repeats (TRs), which include short tandem repeats (STRs) of 1-6bp motifs and variable number tandem repeats (VNTRs) of 7+bp motifs. TR variants contribute to several dozen mono- and polygenic diseases but remain understudied and "enigmatic," particularly relative to single nucleotide variants. It remains comparatively challenging to interpret the clinical significance of TR variants.
View Article and Find Full Text PDFUpdate of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
J Med Genet
March 2024
Aix Marseille Univ, APHM, INSERM, MMG, U1251, GEnOPé Departement, M2GM, Timone Hospital, Marseille, France
Background: The von Hippel-Lindau (VHL) disease is a hereditary tumour syndrome caused by germline mutations in tumour suppressor gene. The identification of variants requires accurate classification which has an impact on patient management and genetic counselling.
Methods: The TENGEN (French oncogenetics network of neuroendocrine tumors) and PREDIR (French National Cancer Institute network for Inherited predispositions to kidney cancer) networks have collected genetic variants and clinical characteristics of all VHL-suspected patients analysed from 2003 to 2021 by one of the nine laboratories performing genetic testing in France.
variants in the population-based PedNet Registry cohort compared with locus-specific genetic databases of the European Association for Haemophilia and Allied Disorders and the Centers for Disease Control and Prevention Hemophilia A or Hemophilia B Mutation Project.
Res Pract Thromb Haemost
January 2023
Department of Clinical Sciences and Paediatrics, Lund University, Lund, Sweden.
Background: Hemophilia A and B are caused by variants in the factor (F) VIII or FIX gene. Selective reporting may influence the distribution of variants reported in genetic databases.
Objectives: To compare the spectrum of and variants in an international population-based pediatric cohort (PedNet Registry) with the spectrum found in the European Association for Haemophilia and Allied Disorders (EAHAD) and the Centers for Disease Control and Prevention Hemophilia A or Hemophilia B Mutation Project (CHAMP/CHBMP) databases.
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