Actionability and Familial Uptake Following Opportunistic Genomic Screening in a Pediatric Cancer Cohort

Medicine, Pediatrics, Psychiatry, Oncology, Cardiovascular System, Life Sciences, Genetics,
Opportunistic Genomic Screening   Familial Uptake   Pediatric Cancer   Medical Actionability   Cascade Testing   Genetic Counseling  

Feasibility Study of Opportunistic Genomic Screening in Pediatric Cancer Patients and Its Family Acceptance Research Background With the development and application of genomic medicine, the care for patients with severe diseases is gradually being optimized. Especially in the field of childhood cancer, whole-genome series DNA testing has become an ...

Discovery of Recessive Effect of Human Polymerase δ Proofreading Deficiency through Mutational Analysis

Discovery of Recessive Effect of Human Polymerase δ Proofreading Deficiency through Mutational Analysis

Medicine, Medical Laboratory Science, Oncology, Life Sciences, Genetics,
Polymerase δ   Proofreading deficiency   Polyposis   Colorectal cancer   Mutational analysis   Tumorigenesis   Cancer predisposition  

Discovery of the Recessive Effect of Human Polymerase δ Proofreading Deficiency: Through Mutation Analysis of Normal Cells and Cancer Cells with POLD1 Mutations Background Introduction The disruption of DNA repair is one of the main mechanisms leading to hereditary cancer. Heterozygous pathogenic variants in the exonic regions of POLD1 and POLE aff...

A Framework for the Evaluation and Reporting of Incidental Findings in Clinical Genomic Testing

Medicine, Medical Laboratory Science, Life Sciences, Genetics,
Incidental Findings   Genome Sequencing   Reporting Framework   Clinical Significance   Actionability Guidelines  

Framework for Evaluation and Reporting of Incidental Findings in Clinical Genome Sequencing Research Background In current clinical practice, clinical genome sequencing (CGS) is gradually becoming an important means for diagnosing rare genetic diseases. However, incidental findings (IFs) are often encountered in genome sequencing, which are unexpec...

An Adaptive and Robust Method for Multi-Trait Analysis of Genome-Wide Association Studies Using Summary Statistics

Mathematics, Life Sciences, Genetics,
Multi-Trait Analysis   Genome-Wide Association Studies   Summary Statistics   Computational Efficiency   Mathematical Methods   Brain Imaging Phenotypes   Genetic Variants  

Adaptive Robust Method for Multi-trait Genome-wide Association Studies Abstract: Genome-wide association studies (GWAS) over the past decade have identified thousands of genetic variants associated with human traits or diseases. However, the heritability of many traits remains largely unexplained. Traditional single-trait analysis methods are overl...

Loss-of-function mutation of the ADNP gene causes Helsmoortel-van der Aa syndrome

Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
ADNP   Helsmoortel-van der Aa syndrome   mutation   whole-genome sequencing   episignature  

Based on the research of Helsmoortel-Van der Aa syndrome (HVDAS) caused by ADNP gene mutations, D’Incal et al. published an in-depth research paper in the European Journal of Human Genetics. Through a case study of a five-year-old girl, the team discovered a three-base pair deletion at the splice acceptor site of the first coding exon of ADNP. This...

Genetic Heterogeneity in Hereditary Hearing Loss: Potential Role of Kinociliary Protein TOGARAM2

Medicine, Basic Medical Sciences, Life Sciences, Cell Biology, Biochemistry, Genetics,
Genetic Heterogeneity   Hereditary Hearing Loss   TOGARAM2   Candidate Gene   Bioinformatics Analysis   Cochlear Hair Cells   Dual Hearing Loss  

Genetic Diversity in Hereditary Hearing Loss: The Potential Role of KINOCILIARY Protein TOGARAM2 Background Hearing Loss (HL) is a feature with multiple causes, and currently, research has identified pathogenic variants in over 200 genes associated with HL. Despite extensive research, the causative factor remains unidentified in more than one-third...