exome - Robuta Search

https://vtechworks.lib.vt.edu/items/3655cd93-0c08-46bc-a61d-8c26fc871ad9/full Exome Resequencing Reveals Evolutionary History, Genomic Diversity, and Targets of Selection in the... Loblolly pine (Pinus taeda) and slash pine (Pinus elliottii) are ecologically and economically important pine species that dominate many forest ecosystems in... 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://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://rgc-research.regeneron.com/ RGC - Million Exome Variant Browser Browse Regeneron Genetic Center's (RGC) .... rgc million exome variant browser https://www.wikidata.org/wiki/Q45880509 Targeted exome sequencing in clear cell renal cell carcinoma tumors suggests aberrant chromatin... exome sequencing clear cell https://publikationen.uni-tuebingen.de/xmlui/handle/10900/132865 Exome-wide analysis of copy number variation shows association of the human leukocyte antigen... copy number variation 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://tagteam.harvard.edu/hub_feeds/3660/feed_retrievals/9012757 TagTeam :: Human Genetics Newsletter - Exome human genetics tagteam newsletter exome 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://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.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://vtechworks.lib.vt.edu/items/c0171c96-d6e3-4810-805b-d955d395f4d0/full Exome resequencing and GWAS for growth, ecophysiology, and chemical and metabolomic composition of... Background Populus trichocarpa is an important forest tree species for the generation of lignocellulosic ethanol. Understanding the genomic basis of biomass... for growth exome gwas https://tagteam.harvard.edu/hub_feeds/3660/feed_retrievals/9017564 TagTeam :: Human Genetics Newsletter - Exome human genetics tagteam newsletter exome 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://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://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://resources.nvidia.com/en-us-hc-genomics/gtcfall22-dlit41350?lx=ssBGs2 Variant Calling on Whole Exome Data using Parabricks Parabricks is a GPU accelerated genomics software designed for secondary analysis whole exome variant calling data using 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://pmc.ncbi.nlm.nih.gov/articles/PMC10040847/ An absolute approach to using whole exome DNA and RNA workflow for cancer biomarker testing - PMC The concept of personalized medicine in cancer has emerged rapidly with the advancement of genome sequencing and the identification of clinically relevant... 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://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://tagteam.harvard.edu/hub_feeds/3660/feed_retrievals/9013136 TagTeam :: Human Genetics Newsletter - Exome human genetics tagteam newsletter exome https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.639364/full Frontiers | Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory... Chikungunya virus (CHIKV) is a re-emergent arbovirus that causes a disease characterized primarily by fever, rash and severe persistent polyarthralgia, altho... central nervous system search for https://pubmed.ncbi.nlm.nih.gov/27867521/ Exome-first approach identified a novel gloss deletion associated with Lowe syndrome a novel 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://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://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://tagteam.harvard.edu/hubs/exome/hub_feeds/3660 TagTeam :: Human Genetics Newsletter - Exome human genetics tagteam newsletter exome 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://about.uq.edu.au/experts/project/20928 Genetic analysis of de novo and inherited exome variation in schizophrenia | Project | UQ Experts 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://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://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://dash.harvard.edu/entities/publication/73120379-42a1-6bd4-e053-0100007fdf3b Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data The dispensability of individual genes for viability has interested generations of geneticists. For some genes it is essential to maintain two functional... https://pubmed.ncbi.nlm.nih.gov/32747172/ Analysis of exome-sequenced UK Biobank subjects implicates genes affecting risk of hyperlipidaemia Rare genetic variants in LDLR, APOB and PCSK9 are known causes of familial hypercholesterolaemia and it is expected that rare variants in other genes will also... uk biobank https://scholars.duke.edu/publication/1058706 Scholars@Duke publication: Exome sequencing in amyotrophic lateral sclerosis identifies risk genes... amyotrophic lateral sclerosis exome sequencing https://tagteam.harvard.edu/hub_feeds/3660/feed_retrievals/9018536 TagTeam :: Human Genetics Newsletter - Exome human genetics tagteam newsletter exome 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://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://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://tagteam.harvard.edu/hub_feeds/3660/feed_retrievals/9016187 TagTeam :: Human Genetics Newsletter - Exome human genetics tagteam newsletter exome 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://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://tagteam.harvard.edu/hub_feeds/3660/feed_retrievals/9019832 TagTeam :: Human Genetics Newsletter - Exome human genetics tagteam newsletter exome 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://scholars.duke.edu/publication/1030213 Scholars@Duke publication: Rare Variants Identified With Whole Exome Chip Genotyping Are Associated... https://tagteam.harvard.edu/hub_feeds/3660/feed_retrievals/9014349 TagTeam :: Human Genetics Newsletter - Exome human genetics tagteam newsletter exome 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://vet.ed.ac.uk/roslin/news-events/archive/2014/first-exome-sequence-completed-in-pigs The First Exome Sequence Completed in Pigs | The Roslin Institute | The Royal (Dick) School of... PIC, a division of Genus plc, in collaboration with Edinburgh Genomics and The Roslin Institute at the University of Edinburgh, UK, announced today that they... https://tagteam.harvard.edu/hub_feeds/3660/feed_retrievals?page=1 TagTeam :: Human Genetics Newsletter - Exome human genetics tagteam newsletter exome 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://tagteam.harvard.edu/hub_feeds/3660/feed_retrievals/3444678 TagTeam :: Human Genetics Newsletter - Exome human genetics tagteam newsletter exome 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://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://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://pure.psu.edu/en/publications/exome-chip-meta-analysis-identifies-novel-loci-and-east-asian-spe/ Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that... 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://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://tobias-lib.ub.uni-tuebingen.de/xmlui/handle/10900/105978 Human exome and mouse embryonic expression data implicateZFHX3,TRPS1, andCHD7in human esophageal... embryonic expression human exome mouse https://portal.fis.tum.de/en/publications/exome-chip-meta-analysis-fine-maps-causal-variants-and-elucidates/ Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare... 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://pubmed.ncbi.nlm.nih.gov/31694657/ Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a... DNA samples from the large family analyzed in this study were initially collected based on a hypothesis that affected members shared a major genetic risk... https://tagteam.harvard.edu/hub_feeds/3661/feed_items/11123585/about TagTeam :: KLF3 promotes colorectal cancer growth by activating WNT1 - pubmed: wnt1 - Exome colorectal cancer tagteam promotes https://resources.nvidia.com/en-us-hc-genomics/gtcfall22-dlit41350 Variant Calling on Whole Exome Data using Parabricks Parabricks is a GPU accelerated genomics software designed for secondary analysis whole exome variant calling data using https://ub01.uni-tuebingen.de/xmlui/handle/10900/70683?show=full Successful Replication of GWAS Hits for Multiple Sclerosis in 10,000 Germans Using the Exome Array 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://scholars.duke.edu/publication/1127455 Scholars@Duke publication: Abstract 4636: Investigation of exome variants associated with overall... 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://tagteam.harvard.edu/hub_feeds/3660/feed_retrievals/3448289 TagTeam :: Human Genetics Newsletter - Exome human genetics tagteam newsletter exome https://fast.wistia.net/embed/iframe/d6t50y1dgg?videoFoam=true&autoplay=1 Fabric Genomics GenomeWeb Webinar Implementation of whole-exome and panel testing for rare disease... https://tagteam.harvard.edu/hub_feeds/3660/feed_retrievals/9021473 TagTeam :: Human Genetics Newsletter - Exome human genetics tagteam newsletter exome 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://tagteam.harvard.edu/hub_feeds/3660/feed_retrievals/3517198 TagTeam :: Human Genetics Newsletter - Exome human genetics tagteam newsletter exome https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1004835 Insight in Genome-Wide Association of Metabolite Quantitative Traits by Exome Sequence Analyses |... Author Summary Human metabolic individuality is under strict control of genetic and environmental factors. In our study, we aimed to find the genetic... 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://dbbs.wustl.edu/tag/exome/ exome Archives - Division of Biology & Biomedical Sciences archives division exome biology biomedical sciences 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://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://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://pubmed.ncbi.nlm.nih.gov/28428889/ Detection of 1p36 deletion by clinical exome-first diagnostic approach Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients... detection deletion clinical exome first 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://tagteam.harvard.edu/hub_feeds/3660/feed_retrievals/9019456 TagTeam :: Human Genetics Newsletter - Exome human genetics tagteam newsletter exome 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://scholarworks.uvm.edu/items/9bd680db-1890-4def-b1ce-14b88a1b521e Capturing variation in Lens (Fabaceae): Development and utility of an exome capture array for lentil Premise of the Study: Lentil is an important legume crop with reduced genetic diversity caused by domestication bottlenecks. Due to its large and complex... https://www.exome-consulting.com/ Exome Consulting exome consulting 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/29083407/ Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that... Most genome-wide association studies have been of European individuals, even though most genetic variation in humans is seen only in non-European samples. To... 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... 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