Stanford researchers show that whole-genome sequencing (WGS) can replace microarrays for detecting copy-number variants (CNVs) in the human genome – by sequencing the samples at low coverage using benchtop next-generation DNA sequencers. Microarrays are the current standard for CNV detection in clinical diagnostics for birth defects, brain disorders, or cancer, and also in stem cell […]
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Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
To enable optimal care, critically ill children on intensive care units (ICU)s may benefit from rapid genetic diagnosis. We developed a workflow incorporating whole genome sequencing and causal variant identification in as little as 4 days. We investigated 24 individuals with suspected rare diseases on ICU at Great Ormond Street Hospital using this workflow. We […]
XRCC2 mutation causes meiotic arrest, azoospermia and infertility
In most eukaryotes, meiotic homologous recombination (HR) is mediated by two recombinase systems, namely, the ubiquitous RAD51 and meiosis-specific DMC1. In the RAD51-mediated HR system, five paralogs are essential for normal RAD51 function. Meanwhile, given the embryonic lethality of RAD51 or any RAD51 paralog knockouts, the role of RAD51 in mammalian meiosis is unclear. This […]
Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap
BRCA1/2 gene mutations are inherited from a parent or acquired in the cells of a tumour. With advances in personalized cancer treatment, knowledge BRCA1/2 mutations (inherited or acquired) can direct cancer treatment, particularly ovarian cancer. This has increased requests for multiple types genetic testing, requiring changes to current genetic testing models. Led by the Society […]
Bacteria-free minicircle DNA system to generate integration-free CAR-T cells
Chimeric antigen receptor T (CAR-T) cells engineered with viral vectors have been successfully applied to treat patients with B cell malignancy. However, viral integration has the potential risk of mutagenesis, and the efforts and cost of viral vector production are demanding. Using non-integrative episomal vector to generate integration free CAR-T cells is an attractive option. […]
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay
Uniparental disomy (UPD) occurs when a person obtains both copies of the homologous chromosome from one parent. UPD can be associated with human diseases caused by disruption of genomic imprinting or homozygosity for a recessive trait. In this report, we describe the first human case of paternal UPD for chromosome 19 in monozygotic twins showing […]
Fine mapping MHC associations in Graves’ disease and its clinical subtypes in Han Chinese
The classical human leukocyte antigen (HLA) genes were the most important genetic determinant for Graves’ disease (GD). We applied imputation to thoroughly investigate the MHC associations with GD down to the amino acid level of classical HLA genes in 1,468 GD patients and 1,490 controls of Han Chinese. We observed the top association signal at […]
Applications and advances of CRISPR-Cas9 in cancer immunotherapy
To date, few articles have systematically described the applications and advances of CRISPR-Cas9 in cancer immunotherapy. Immunotherapy has emerged as one of the most promising therapeutic strategies in cancer. CRISPR-Cas9 system, as an RNA-guided genome editing technology, can be implemented to fuel the production of therapeutic immune cells such as construction of chimeric antigen receptor […]
Genetic obesity: next-generation sequencing results of 1230 patients with obesity
Obesity is a global severe health problem, highly influenced by environmental factors such as a sedentary lifestyle and unhealthy eating habits. In rare cases, a genetic defect can be identified as the main cause of obesity. Our article summarizes the genetic obesity test results of 1230 Dutch obese patients. This test included 52 obesity-associated genes. […]
Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect
Hereditary lobular breast cancer is an inherited syndrome that is associated with the CDH1 germline mutations. The CDH1 gene plays a crucial role in the correct function of human cells. Loss of the encoded protein, so called E-cadherin, represents a dramatic event; in human epithelial cancers, as diffuse gastric and lobular breast tumors, this loss […]