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...

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...

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 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...

DNA Methylation Characteristics for Recognizing Mowat-Wilson Syndrome Background Mowat-Wilson syndrome (MOWS) is a rare neurodevelopmental disorder caused by heterozygous deletions or loss-of-function mutations in the ZEB2 gene. This gene encodes a transcription factor involved in neural development. Individuals with MOWS often present with moderat...

Analysis of Lynch Syndrome Diagnostic Pathway Introduction Lynch Syndrome (LS) is a hereditary cancer susceptibility syndrome that primarily leads to the occurrence of colorectal cancer (CRC), endometrial cancer, and several other types of cancer. Although the incidence of Lynch Syndrome among cancer patients and its importance to public health hav...

Progressive neurological disease with gingival hyperplasia due to TBC1D2B gene deficiency Background Introduction In recent years, with the rapid development of genomic technologies, scientists have gained deeper insights into the relationship between genetic variations and human diseases. Increasingly, research has revealed the important role thes...

Qualitative Study Report on the Experience of Extensive Germline Sequencing in Children with Cancer Aged 12-18 Background Introduction With the development of genetic sequencing technology, germline DNA sequencing has gradually become a routine practice in pediatric cancer care. Recent studies estimate that about 10% of children with cancer have ge...

Detection of a 39 kb structural variant causing Lynch syndrome using optical genome mapping and nanopore sequencing Research Background Lynch syndrome (LS) is a hereditary cancer syndrome primarily caused by pathogenic germline variants in four genes of the MMR (mismatch repair) gene family: MLH1, MSH2, MSH6, and PMS2. This syndrome is characterize...

Additive Evidence of Rare and Common Variant Burden Across the Spectrum of Intellectual Disability Severity Academic Background Intellectual Disability (ID) is a common condition with a range of severity from mild to profound. Mild ID is often viewed as the lower end of the intelligence distribution, while severe ID is typically considered a monoge...