For genetic researchers trying to identify the genes implicated in over 6,800 rare diseases [2], exome sequencing enables rapid, cost-effective identification of common single nucleotide variants (SNVs), copy number variations (CNVs), and small insertions or ...
© American College of Medical Genetics and Genomics ORIGINAL RESEARCH ARTICLE Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis Sophie Nambot, MD1,2,3,4, Julien Thevenon, ...
In this study, we have conducted whole-exome sequencing (WES) and identified underlying pathogenic or likely pathogenic variants in five children with rare genetic diseases. We present evidence for disease-causing autosomal recessive variants in a range of disease-associated genes such as DHH -...
Whole Exome Sequencing (WES) is a groundbreaking genetic test that examines the coding regions of your DNA. These regions, known as exons, contain crucial information about the proteins responsible for various biological functions. Whole Genome Sequencing (WGS) has also revolutionized genomics research...
Prescreen has excluded known causing mutations for RP. We aimed to identify possible causal genes of RP in this Chinese family using a whole-exome sequencing approach, together with validation by another independent three-generation family. Methods Subjects and clinical evaluation. We recruited a ...
Genetic diseases exhibit significant clinical and genetic diversity, leading to a complex and challenging diagnostic process. Exploiting novel approaches is imperative for the molecular diagnosis of genetic diseases. In this study, we...
Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of actionable cancer drivers. Compared to other molecular genetic methods, WGS captures most genomic variat
测序研究wholefor全基因组Exome组测序基因组Whole测序的 系统标签: exomesequencing基因组researchautismampliseq Introduction The search for rapid, cost-effective genetic testing solutions Genetic testing is now available or more than 2,000 rare and common diseases, and more tests are being adopted as mor...
A recent exome sequencing of >170,000 individuals identified rare coding variants in 35 genes for total cholesterol, LDLC, HDLC, triglycerides, or their ratios [13]. Indeed, identification of rare loss-of-function variants may reveal genes that can be targeted to prevent disease, such as the...
© American College of Medical Genetics and Genomics Original Research Article Open Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer Clara Esteban-Jurado, MSc1, Maria Vila-Casadesús, MSc2, Pilar Garre, MD, PhD3, ...