exome sequencing - Robuta Search

https://pubmed.ncbi.nlm.nih.gov/25855536/?dopt=Abstract Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets Pancreatic ductal adenocarcinoma (PDA) has a dismal prognosis and insights into both disease etiology and targeted intervention are needed. A total of 109... whole exome sequencing pancreatic cancer https://www.wikidata.org/wiki/Q45880509 Targeted exome sequencing in clear cell renal cell carcinoma tumors suggests aberrant chromatin... exome sequencing clear cell https://www.sciencedaily.com/releases/2013/06/130626211922.htm Whole genome or exome sequencing: An individual insight | ScienceDaily Focusing on parts rather than the whole, when it comes to genome sequencing, might be extremely useful, finds new research. The research compares several... whole genome exome sequencing an individual insight sciencedaily https://www.sciencedaily.com/releases/2014/06/140618184622.htm Primer for doctors' use of clinical genome, exome sequencing | ScienceDaily Sooner than almost anyone expected, a new, genome-based technology for demystifying undiagnosed illnesses -- particularly rare childhood diseases -- is moving... for doctors exome sequencing primer use clinical https://pubmed.ncbi.nlm.nih.gov/24410847/ Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental... By studying these unique pedigrees, we have identified novel DNA variations related to ASD, demonstrated that exome sequencing in extended families is a... exome sequencing extended families https://profiles.wustl.edu/en/publications/whole-exome-sequencing-identifies-de-novo-mutations-in-gata6-asso/ Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital... whole exome sequencing de novo https://experts.arizona.edu/en/publications/exome-sequencing-reveals-new-causal-mutations-in-children-with-ep/fingerprints/?sortBy=alphabetically Exome sequencing reveals new causal mutations in children with epileptic encephalopathies -... exome sequencing reveals new causal https://experts.umn.edu/en/publications/exome-sequencing-identifies-variants-in-infants-with-sacral-agene/ Exome sequencing identifies variants in infants with sacral agenesis - Experts@Minnesota exome sequencing sacral agenesis identifies variants https://microbiology.weill.cornell.edu/exome-sequencing-and-prediction-long-term-kidney-allograft-function Exome Sequencing and Prediction of Long-Term Kidney Allograft Function. | Microbiology and... exome sequencing long term prediction https://experts.umn.edu/en/publications/the-sensitivity-of-exome-sequencing-in-identifying-pathogenic-mut/ The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United... exome sequencing https://disorders.eyes.arizona.edu/references/whole-exome-sequencing-identifies-mutation-novel-form-corneal-intraepithelial Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial... whole exome sequencing https://collaborate.princeton.edu/en/publications/quantifying-tumor-heterogeneity-in-whole-genome-and-whole-exome-s/ Quantifying tumor heterogeneity in whole-genome and whole-exome sequencing data - Princeton... whole genome exome sequencing tumor heterogeneity https://scholars.duke.edu/publication/1058706 Scholars@Duke publication: Exome sequencing in amyotrophic lateral sclerosis identifies risk genes... amyotrophic lateral sclerosis exome sequencing https://www.cancer.gov/publications/dictionaries/genetics-dictionary/def/whole-exome-sequencing Definition of whole exome sequencing - NCI Dictionary of Genetics Terms - NCI A dictionary of more than 150 genetics-related terms written for healthcare professionals. This resource was developed to support the comprehensive,... whole exome sequencing definition of dictionary genetics terms https://pubmed.ncbi.nlm.nih.gov/35474353/ Exome sequencing in individuals with cardiovascular laterality defects identifies potential... The birth prevalence of laterality defects is about 1.1/10,000 comprising different phenotypes ranging from situs inversus totalis to heterotaxy, mostly... exome sequencing individuals cardiovascular laterality defects https://elbiruniblogspotcom.blogspot.com/2017/05/whole-exome-sequencing-may-routinely.html CIENCIASMEDICASNEWS: Whole-exome sequencing may routinely miss detecting some disease-causing... Whole-exome sequencing may routinely miss detecting some disease-causing genes, say researchers Whole-exome sequencing may routinely miss... whole exome sequencing may https://dbbs.wustl.edu/tag/whole-exome-sequencing/ whole-exome sequencing Archives - Division of Biology & Biomedical Sciences whole exome sequencing archives division biology biomedical sciences https://open.library.emory.edu/concern/publications/158bc153-6430-4230-b7b3-5abd2910a826 Whole-genome and multisector exome sequencing of primary and post-treatment glioblastoma reveals... Whole-genome and multisector exome sequencing of primary and post-treatment glioblastoma reveals patterns of tumor evolution whole genome exome sequencing https://tagteam.harvard.edu/hub_feeds/3661/feed_items/12124897 TagTeam :: Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis... exome sequencing https://pubmed.ncbi.nlm.nih.gov/20942659/ Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia We sequenced all protein-coding regions of the genome (the "exome") in two family members with combined hypolipidemia, marked by extremely low plasma levels of... exome sequencing mutations familial combined https://www.southampton.ac.uk/research/projects/ennis-cicra-exome-sequencing-of-paediatric-inflammatory-bowel-disease-patients Ennis CICRA Exome sequencing of paediatric inflammatory bowel disease patients | University of... Ennis CICRA Exome sequencing of paediatric inflammatory bowel disease patients. inflammatory bowel disease exome sequencing ennis https://health.economictimes.indiatimes.com/tag/exome+sequencing Exome sequencing - Latest exome sequencing , Information & Updates - Health -ET HealthWorld ETHealthworld.com brings latest exome sequencing news, views and updates from all top sources for the Indian Health industry. exome sequencing latest information updates health et https://systemsbiology.columbia.edu/events/gene-fusion-discovery-through-whole-exome-sequencing Gene Fusion Discovery through Whole-Exome Sequencing | Columbia University Department of Systems... whole exome sequencing https://scholars.duke.edu/publication/1056320 Scholars@Duke publication: Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119... whole exome sequencing https://disorders.eyes.arizona.edu/references/whole-exome-sequencing-identifies-mutations-gpr179-leading-autosomal-recessive-complete Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete... whole exome sequencing https://pmc.ncbi.nlm.nih.gov/articles/PMC10689790/ Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous... Anomalous pulmonary venous return (APVR) frequently occurs with other congenital heart defects (CHDs) or extra-cardiac anomalies. While some genetic causes... exome sequencing clinical efficacy https://disorders.eyes.arizona.edu/references/whole-exome-sequencing-identifies-crb1-defect-unusual-maculopathy-phenotype Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype | Hereditary... whole exome sequencing https://experts.umn.edu/en/publications/whole-exome-sequencing-in-patients-with-ectopic-posterior-pituita/ Whole Exome Sequencing in Patients with Ectopic Posterior Pituitary - Experts@Minnesota whole exome sequencing patients https://open.library.emory.edu/concern/publications/2ff53c5e-d07f-4a53-93a0-b2be87f38ecf Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease... Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes whole exome sequencing https://ub01.uni-tuebingen.de/xmlui/handle/10900/170089 Benchmarking whole exome sequencing in the German network for personalized medicine whole exome sequencing german network benchmarking https://www.hca.wa.gov/about-hca/programs-and-initiatives/health-technology-assessment/genomic-micro-array-and-whole-exome-sequencing Genomic micro-array and whole exome sequencing | Washington State Health Care Authority Why are genomic micro-array and WES being reviewed? Whether results from genetic sequencing can improve diagnosis, treatment decisions, and health outcomes in... whole exome sequencing https://pubmed.ncbi.nlm.nih.gov/36135330/ Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal... Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite... exome sequencing efficacy expansions involving esophageal https://about.uq.edu.au/experts/project/21169 Whole exome sequencing of sporadic MND | Project | UQ Experts whole exome sequencing mnd project uq experts https://tobias-lib.ub.uni-tuebingen.de/xmlui/handle/10900/170089 Benchmarking whole exome sequencing in the German network for personalized medicine whole exome sequencing german network benchmarking https://pubmed.ncbi.nlm.nih.gov/33279852/ Exome sequencing identifies a recurrent variant in SERPINA3 associating with hereditary... exome sequencing identifies recurrent https://pubmed.ncbi.nlm.nih.gov/31482689/ Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia Our observations demonstrate the utility of population-specific allele frequency data to the diagnosis of monogenic disorders using high-throughput... whole exome sequencing https://conservancy.umn.edu/items/997649bb-81bb-4aff-9491-5ab475dc5ee1 Whole Exome Sequencing Identifies Candidate Genes For Autosomal Dominant Mesomandibular... Autosomal dominant mesomandibular fibro-ossseous dysplasia (ADMFOD) is an inherited fibro-osseous condition that affects the mandible and is apparently... whole exome sequencing identifies candidate genes autosomal https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2024.1480947/full Frontiers | Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the... Background: Approximately half of hypertrophic cardiomyopathy (HCM) patients lack a precise genetic diagnosis. The likelihood of identifying clinically relev... exome sequencing data reanalysis hypertrophic cardiomyopathy frontiers https://data.mendeley.com/datasets/nyf3pcc7bx/1 Whole exome sequencing of apocrine adenocarcinoma - Mendeley Data Whole exome sequencing of apocrine adenocarcinoma whole exome sequencing adenocarcinoma mendeley data https://health.economictimes.indiatimes.com/tag/whole+exome+sequencing Whole exome sequencing - Latest whole exome sequencing , Information & Updates - Health -ET... ETHealthworld.com brings latest whole exome sequencing news, views and updates from all top sources for the Indian Health industry. whole exome sequencing latest information updates health et https://pure.psu.edu/en/publications/exome-sequencing-of-senescence-accelerated-mice-sam-reveals-delet/ Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative... exome sequencing https://dnanexus.gitbook.io/uk-biobank-rap/science-corner/whole-exome-sequencing-oqfe-protocol/protocol-for-processing-ukb-whole-exome-sequencing-data-sets Protocol for Processing UKB Whole Exome Sequencing Data Sets | Research Analysis Platform whole exome sequencing for processing https://dnatesting.uchicago.edu/news/ucgs-introduces-exome-sequencing UCGS Introduces Exome Sequencing | The University of Chicago Genetic Services the university of chicago exome sequencing introduces genetic services https://pubmed.ncbi.nlm.nih.gov/31182824/ Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical... Our review demonstrates that ES consistently outperforms CMA for evaluation of unexplained NDDs. We propose a diagnostic algorithm placing ES at the beginning... https://pmc.ncbi.nlm.nih.gov/articles/PMC12074826/ A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future... Over the last decade, whole-exome sequencing (WES) has become a standard diagnostic tool, significantly transforming the landscape of clinical genetics and... https://pubmed.ncbi.nlm.nih.gov/40642607/ Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50... Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing... https://www.wikidata.org/wiki/Q38883296 A clinical utility study of exome sequencing versus conventional genetic testing in pediatric... scientific article published on 23 March 2017 https://www.newswire.ca/news-releases/bgi-australia-receives-nata-certification-for-clinical-whole-exome-sequencing-825571935.html BGI Australia Receives NATA Certification for Clinical Whole Exome Sequencing /CNW/ -- BGI Australia's lab has achieved accreditation from the National Association of Testing Authorities (NATA) to perform clinical Whole Exome... whole exome bgi australia receives nata https://scholars.uky.edu/en/publications/an-exome-wide-sequencing-study-of-the-goldn-cohort-reveals-novel-/ An exome-wide sequencing study of the GOLDN cohort reveals novel associations of coding variants... https://scholars.duke.edu/publication/1409846 Scholars@Duke publication: Yield of whole exome sequencing in undiagnosed patients facing insurance... whole exome sequencing https://hsrc.himmelfarb.gwu.edu/sphhs_epibiostats_facpubs/605/ "Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 control" by Jason Flannick, Josep M... By Jason Flannick, Josep M Mercader, Christian Fuchsberger, et al., Published on 06/01/19 https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.746082/full Frontiers | Exome-Sequencing Identifies Novel Genes Associated with Recurrent Pregnancy Loss in a... Recurrent pregnancy loss (RPL) is a common reproductive problem affecting around 5% of couples worldwide. At present, about half of RPL cases remained unexpl... https://pubmed.ncbi.nlm.nih.gov/34791246/ Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in... whole exome sequencing https://pure.psu.edu/en/publications/a-machine-learning-approach-for-accurate-detection-of-copy-number/ A machine-learning approach for accurate detection of copy number variants from exome sequencing -... https://www.lni.wa.gov/patient-care/treating-patients/conditions-and-treatments/whole-exome-sequencing Whole exome sequencing Use this lookup tool to determine coverage decisions, or if prior authorization is needed for the treatment or condition. whole exome sequencing https://open.library.emory.edu/concern/publications/d88d39d4-246a-4815-a88c-40edd8960d81 Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell... Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia whole exome sequencing https://pure.psu.edu/en/publications/erratum-to-exome-sequencing-of-slc30a2-identifies-novel-loss-and-/ Erratum to: Exome Sequencing of SLC30A2 Identifies Novel Loss- and Gain-of-Function Variants... https://research-portal.st-andrews.ac.uk/en/datasets/whole-exome-sequencing-in-children-with-dyslexia-identifies-rare-/ Whole-exome sequencing in children with dyslexia identifies rare variants in CLDN3 and ion channel... whole exome sequencing https://tobias-lib.uni-tuebingen.de/xmlui/handle/10900/132867 A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with... https://www.ndph.ox.ac.uk/research/research-groups/eph/research/genomics-and-economics-theme/genomics-and-economics-projects/the-cost-and-cost-effectiveness-of-whole-exome-and-whole-genome-sequencing-a-systematic-literature-review The cost and cost-effectiveness of whole-exome and whole-genome sequencing: A systematic literature... the cost whole exome https://pharm.ucsf.edu/transpers/news/2023/10/transpers-publishes-on-multi-cancer-early-detection-tests-prenatal-exome-sequencing-and-health TRANSPERS Publishes on Multi-Cancer Early Detection Tests, Prenatal Exome Sequencing, and Health... https://pubmed.ncbi.nlm.nih.gov/41386636/ Uncovering common genetic risk factors in migraine and epilepsy through whole exome sequencing The identified variants predominantly involve genes encoding sodium, potassium, and GABA receptors that result in ion channel dysfunction and neurotransmitter... genetic risk factors https://hspop.uw.edu/publication/psychological-outcomes-related-to-exome-and-genome-sequencing-result-disclosure-a-meta-analysis-of-seven-clinical-sequencing-exploratory-research-cser-consortium-studies/ Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of... Robinson JO, Wynn J, Biesecker B, Biesecker LG, Bernhardt B, Brothers KB, Chung WK, Christensen KD, Green RC, McGuire AL, Hart MR, Griesemer I, Patrick DL,... https://amsdottorato.unibo.it/id/eprint/8295/ Ethical, legal and social issues related to the offer of whole exome and whole genome sequencing legal and social issues https://hsrc.himmelfarb.gwu.edu/gwhpubs/2853/ "Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reve" by Louise C. Pyle, Jung... BACKGROUND: Testicular germ cell tumor (TGCT) is the most common cancer among young White men. TGCT is highly heritable, although there are no known... https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2020.627122/full Frontiers | Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi... Autosomal recessive Primary Microcephaly (MCPH) a neurodevelopmental defect that is characterized by reduced head circumference at birth along with non-progr... https://experts.arizona.edu/en/publications/large-scale-exome-sequencing-study-implicates-both-developmental-/ Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the... https://experts.arizona.edu/en/publications/inferring-compound-heterozygosity-from-large-scale-exome-sequenci/ Inferring compound heterozygosity from large-scale exome sequencing data - University of Arizona large scale https://eprints.ncl.ac.uk/200255 Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory... whole exome sequencing https://scholars.duke.edu/publication/1383161 Scholars@Duke publication: Whole Exome Sequencing of Cell-Free DNA for Early Lung Cancer: A Pilot... https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/2484/ "Clinical exome sequencing reveals locus heterogeneity and phenotypic v" by Bo Yuan, Juanita Neira... By Bo Yuan, Juanita Neira, Davut Pehlivan, et al., Published on 08/30/18 https://scholarworks.indianapolis.iu.edu/items/1fc22565-7790-4ba7-bc8c-e1c469a93deb Genetic architecture of laterality defects revealed by whole exome sequencing Aberrant left-right patterning in the developing human embryo can lead to a broad spectrum of congenital malformations. The causes of most laterality defects... whole exome genetic architecture laterality defects https://pubmed.ncbi.nlm.nih.gov/36064943/ Integrating rapid exome sequencing into NICU clinical care after a pilot research study Genomic sequencing is a powerful diagnostic tool in critically ill infants, but performing exome or genome sequencing (ES/GS) in the context of a research... https://disorders.eyes.arizona.edu/references/exome-sequencing-reveals-agbl5-novel-candidate-gene-and-additional-variants-retinitis Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis... https://www.wikidata.org/wiki/Q38997289 Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer - Wikidata scientific article published on 8 May 2014 https://pmc.ncbi.nlm.nih.gov/articles/PMC10115361/ Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR - PMC Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder marked by incomplete retinal vascularization associated with exudation,... whole exome sequencing https://pubmed.ncbi.nlm.nih.gov/27692106/ Whole-exome sequencing analysis in twin sibling males with an anterior cruciate ligament rupture Familial predisposition is among the major genetic risk factors for non-contact musculoskeletal tissue injuries. Personal genome sequence shows that different... whole exome sequencing https://researchportalplus.anu.edu.au/en/publications/rare-variant-gene-based-association-study-of-hereditary-melanoma-/ Rare variant, gene-based association study of hereditary melanoma using whole-exome sequencing -... https://pubmed.ncbi.nlm.nih.gov/35066699/ Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian... In the present study, rare novel variants were identified in genes known to be associated with POI, which contribute to the mutation spectrum. The effects of... whole exome sequencing https://portal.fis.tum.de/en/publications/diagnostic-exome-sequencing-in-early-onset-parkinsons-disease-con/ Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of...