Results 101 to 110 of about 13,351 (224)
Human Mutation, Volume 43, Issue 12, Page 1921-1944, December 2022., 2022 Abstract Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3.
Mads Thomassen +49 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli +10 more
wiley +1 more source
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
Human Mutation, Volume 43, Issue 12, Page 1956-1969, December 2022., 2022 Abstract Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contribution of low‐level mosaic TSC1/TSC2 mutations in unsolved sporadic patients and families with ...
Zimeng Ye +31 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson +14 more
wiley +1 more source
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project
Human Mutation, Volume 43, Issue 12, Page 1979-1993, December 2022., 2022 Abstract Detection of de novo variants (DNVs) is critical for studies of disease‐related variation and mutation rates. To accelerate DNV calling, we developed a graphics processing units‐based workflow. We applied our workflow to whole‐genome sequencing data from three parent‐child sequenced cohorts including the Simons Simplex Collection (SSC), Simons
Jeffrey K. Ng +16 more
wiley +1 more source
Bayesian estimation of a semiparametric recurrent event model with applications to the penetrance estimation of multiple primary cancers in Li-Fraumeni Syndrome [PDF]
arXiv, 2018 A common phenomenon in cancer syndromes is for an individual to have multiple primary cancers at different sites during his/her lifetime. Patients with Li-Fraumeni syndrome (LFS), a rare pediatric cancer syndrome mainly caused by germline TP53 mutations, are known to have a higher probability of developing a second primary cancer than those with other ...
arxiv
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis +16 more
wiley +1 more source
Human Mutation, Volume 43, Issue 12, Page 2130-2140, December 2022., 2022 Abstract Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can be challenging. To obtain a molecular diagnosis in 15 individuals meeting diagnostic criteria for NF1, we performed transcriptome analysis (RNA‐seq) on RNA
Hannie C. W. Douben +24 more
wiley +1 more source
Machine Learning based Prediction of Hierarchical Classification of Transposable Elements [PDF]
arXiv, 2019 Transposable Elements (TEs) or jumping genes are the DNA sequences that have an intrinsic capability to move within a host genome from one genomic location to another. Studies show that the presence of a TE within or adjacent to a functional gene may alter its expression.
arxiv
Human Mutation, Volume 43, Issue 12, Page 2308-2323, December 2022., 2022 Abstract Modeling splicing is essential for tackling the challenge of variant interpretation as each nucleotide variation can be pathogenic by affecting pre‐mRNA splicing via disruption/creation of splicing motifs such as 5′/3′ splice sites, branch sites, or splicing regulatory elements.
Raphaël Leman +35 more
wiley +1 more source