• Wang Z, Lu Y, Fornage M, Jiao L, Shen J, Li Donghui , Wei P . Identification of novel susceptibility methylation loci for pancreatic cancer in a two-phase epigenome-wide association study. (mdanderson.org)
  • To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). (ox.ac.uk)
  • Objective Genome-wide association studies (GWAS) have identified over 30 susceptibility loci associated with Alzheimer's disease (AD). (unicatt.it)
  • 2003). A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14. (umaryland.edu)
  • Genome-wide association studies have identified more than 100 genetic loci for SLE susceptibility across populations, with most of the genetic risk shared across borders and ethnicities. (medscape.com)
  • A genome-wide study in a northern European population replicated the association of SLE with susceptibility genes related to B-cell receptor pathway signaling, as well as confirmed the association of SLE with genes at the interferon regulatory factor 5 (IRF5)-TNPO3 locus. (medscape.com)
  • Full genome-sequencing of additional species and specimens of S. haematobium, S. japonicum, and S. mansoni is desirable to better characterize differences within and among these species, to develop additional genetic markers, and to examine genes as well as conserved non-coding elements associated with drug resistance. (biomedcentral.com)
  • Click "Gene Ontology Details" to view all GO information and evidence for this locus as well as biological processes it shares with other genes. (yeastgenome.org)
  • Quantitative Trait Loci and Candidate Genes for Neutrophil Recruitment in Sterile Inflammation Mapped in AXB-BXA Recombinant Inbred Mice. (genenetwork.org)
  • Existing isolate comparisons described several novel RNB1 genomic regions, including two potential vir genes, and a Gene Ontology procyclic repeat pathogenesis locus. (rutgers.edu)
  • His team has pioneered novel approaches, including copy number variation (CNV) and structural variation (SV) discovery, as well as whole-genome sequencing, and the development of informatics tools, to delineate loci and genes involved in these conditions. (sfari.org)
  • The new finding flags a DNA sequence called the BAZ2B locus, a region along the genome containing three genes previously unknown to play any role in cardiac biology, according to a report published online June 30 in PLoS Genetics . (sciencedaily.com)
  • She is currently leading analyses of whole exome and genome sequencing of African American men with hereditary prostate cancer from the African American Hereditary Prostate Cancer (AAHPC) study with the aim to identify causal genes and high-risk variants. (ashg.org)
  • Importantly, it is shown that mutations affecting the isocitrate dehydrogenase (IDH) 1 and 2 genes, one of the most frequent genetic alterations in gliomas, lead to genome-wide DNA hypermethylation and the consequent IE dysfunction. (biomedcentral.com)
  • Here, we announce and describe the complete genome sequence of P. corrugata RM1-1-4 consisting of a single 6.1 Mb circular chromosome that encodes 5189 protein coding genes and 85 RNA-only encoding genes. (biomedcentral.com)
  • Genome analysis revealed genes predicting functions such as detoxifying mechanisms, stress inhibitors, exoproteases, lipoproteins or volatile components as well as rhizobactin siderophores and spermidine. (biomedcentral.com)
  • He is head of the collection of EMBL-EBI resources focused on Genes, Genomes and Variation and in this role provides strategic leadership of the six faculty groups that together provide all of EBI's genome annotation resources. (agbt.org)
  • To resolve phylogenetic relationships among ries of bacterial clonal complexes by using concatenated isolates, we sequenced 68 isolates from Europe and North sequences of housekeeping genes when within-loci and America at 1 chromosomal locus (16S-23S ribosomal RNA between-loci recombinations are infrequent ( 5 ). (cdc.gov)
  • Las redes funcionan para en última instancia especificar la expresión de conjuntos concretos de GENES para estados, momentos o lugares específicos. (bvsalud.org)
  • Genome sequences and population genetic parameters can give insight into the potential for population- or species-level drug resistance. (biomedcentral.com)
  • Microsatellite DNA loci are genetic markers in wide use by Schistosoma researchers, but there are few primers available for S. haematobium . (biomedcentral.com)
  • Genetic and cytogenetic studies have revealed the presence of several pairing homoeologous ( Ph ) loci that ensure wheat behaves as a diploid during meiosis, with only homologous chromosomes of the same sub-genome (AA, BB or DD) pairing and recombining. (nature.com)
  • To this end, two diverse populations of the US Pacific Northwest (PNW)-adapted winter wheat were genotyped on recently developed 9K and 90K single nucleotide polymorphism (SNP) genetic marker platforms and phenotyped in three low-pH, Al-toxic field settings. (usda.gov)
  • A genome-wide association study to identify genetic determinants of atopy in subjects from the United Kingdom Journal of Allergy and Clinical Immunology. (nottingham.ac.uk)
  • A multinational study that trawled the genomes of more than 100,000 people has trebled the tally of known genetic risk factors for migraine. (medicalnewstoday.com)
  • Researchers have now conducted the largest genetic study of migraine to date, which involved analyzing the genomes of 102,084 people with migraine and those of 771,257 controls who do not have the condition. (medicalnewstoday.com)
  • They identified 123 genetic regions, or loci, that are associated with the condition - 86 of which were previously unknown. (medicalnewstoday.com)
  • They also discovered three genetic loci that appear to be specific to MA, two that are specific to MO, and nine that are associated with both types. (medicalnewstoday.com)
  • In addition to implicating tens of new regions of the genome for more targeted investigation, our study provides the first meaningful opportunity to evaluate shared and distinct genetic components in the two main migraine subtypes," says first author Heidi Hautakangas, Ph.D., from the Institute for Molecular Medicine Finland at the University of Helsinki. (medicalnewstoday.com)
  • Novel genetic loci underlying human intracranial volume identified through genome-wide association. (ox.ac.uk)
  • Polymerase chain reaction (PCR) based locus recoveries identified previously undescribed genetic diversity and phylogenetically separated oak associated populations based on host geography. (rutgers.edu)
  • To further explore genetic diversity in understudied X. fastidiosa oak populations, the genome of a Northeastern Quercus palustris associated X. fastidiosa isolate, RNB1, was sequenced and analyzed. (rutgers.edu)
  • Our analysis suggests that if you have one copy of this variant, your increased risk is double that of someone who doesn't," says Dan Arking, Ph.D., lead author of the study and an associate professor in the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine. (sciencedaily.com)
  • A recently introduced Polygenic Hazard Score (PHS) is able to quantify individuals with age-specific genetic risk for AD. (unicatt.it)
  • The aim of this study was to quantify the age-specific genetic risk for AD with PRS and compare the results generated by PRS with those from PHS. (unicatt.it)
  • The age-specific genetic risk for AD identified by the PRS was compared with that generated by the PHS. (unicatt.it)
  • Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture. (nih.gov)
  • Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study. (nih.gov)
  • In the past decades, more than 1,000 common genetic variants have been identified for many complex diseases and traits through a large number of genome-wide association studies. (nhri.org.tw)
  • The genetic homogeneity of ospC -A isolates was confi rmed agent, Borrelia burgdorferi , a spirochete that parasitizes by sequences at 6 additional chromosomal housekeeping vertebrates, is transmitted by hard-bodied ticks through- loci ( gap, alr, glpA, xylB, ackA, and tgt ). (cdc.gov)
  • Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (ox.ac.uk)
  • Genome-wide association study identifies five loci associated with lung function. (ox.ac.uk)
  • Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. (nhri.org.tw)
  • A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. (nhri.org.tw)
  • Genome-wide association study identifies multiple risk loci for renal cell carcinoma. (who.int)
  • Genome-wide association studies identify four ER negative-specific breast cancer risk loci. (ox.ac.uk)
  • Such oscillations are perturbed in human cancers wherein CENP-A is innately mis-regulated and occupies ectopic regions of the human genome linked to instability. (wikipedia.org)
  • His research focuses on resolving complex regions of the human genome and structural variants with a particular focus on tandem repeats and the immunoglobulin heavy chain locus. (ashg.org)
  • Methods Among 323 wheat accessions, we investigated phenotypic differences in root traits at booting and mid-grain fill stages in PVC tubes, shoot traits including plant height (PH), canopy temperature (CT) and grain yield per plant (YPP) in a field experiment, and performed a genome-wide association study with a Wheat 660K SNP Array. (cgiar.org)
  • Researchers first performed a genome-wide association study in a diverse sorghum panel and identified an important locus, Alkaline tolerance 1 (AT1), that encodes an atypical G protein γ subunit and controls alkaline tolerance. (ecns.cn)
  • Our goal is to decipher the etiology of these disorders by identifying environmental risk factors and genomic loci associated with the conditions. (lu.se)
  • The S. cerevisiae Reference Genome sequence is derived from laboratory strain S288C . (yeastgenome.org)
  • Click "Sequence Details" to view all sequence information for this locus, including that for other strains. (yeastgenome.org)
  • endemicum but contains two loci with a sequence in TP0548 and TP0488 similar to subsp. (muni.cz)
  • Tiled regression is a method that determines the set of independent sequence variants across the entire genome that best predict a given phenotype, against the background of all the variants in the genome. (nih.gov)
  • Genomic architecture of autism from comprehensive whole-genome sequence annotation. (sfari.org)
  • In this report, we summarize the complete genome sequence and annotation of RM1-1-4. (biomedcentral.com)
  • The genome sequence of RM1-1-4 and its comparison with related published genomes will provide a framework for further functional studies of its abiotic and biotic stress protecting effectiveness in plant and rhizosphere competence. (biomedcentral.com)
  • His innovative biotechnologies and computational tools to study the sequence and function of genomes are advancing the understanding of the structure, evolution, and function of genomes for medicine - particularly autism spectrum disorders, cancer, and other human diseases - and agriculture. (agbt.org)
  • Here we obtained a well-resolved polymorphism type of intergenic spacer (IGS) sequence phylogeny of B. burgdorferi sensu stricto clonal complexes (corresponding to the ospC- A and -B groups) is associated by using multilocus sequence typing at housekeeping loci with hematogenous dissemination in patients with early as well as loci under adaptive evolution. (cdc.gov)
  • This study used a permanent mapping population with 144 recombinant inbred lines (RILs) and 2 828 bin-markers to detect quantitative trait loci (QTLs) associated with mesocotyl length in 2019 and 2020. (chinaagrisci.com)
  • In wheat, a complex allohexaploid that has a diploid-like behaviour, meiotic recombination between homoeologous or alien chromosomes is suppressed through the action of several loci. (nature.com)
  • Higher level regression is then used to determine independent variants over chromosomes and the entire genome. (nih.gov)
  • It focuses on studying chromosomes at a molecular scale, involving techniques that analyze either the whole genome or particular DNA sequences to examine variations in structure and behavior at the chromosomal or subchromosomal level. (seqanswers.com)
  • Genomes in malignant tumors often house sections of chromosomes that are deleted, duplicated or fused together. (agbt.org)
  • Here, we identified loci associated to multi-environmental yield-related traits under stripe rust stress in 244 wheat accessions from Sichuan Province through genome-wide association study (GWAS) using 44,059 polymorphic markers from the 55 K single nucleotide polymorphism (SNP) chip. (biomedcentral.com)
  • Genome-wide association study (GWAS) is a powerful tool to identify loci associated to target traits based on linkage disequilibrium (LD) using natural populations. (biomedcentral.com)
  • Genome-wide association studies (GWAS) uncovered a total of 55 loci, 15 of which were common to both populations. (usda.gov)
  • 5 × 10 −8 ) has been used for genome-wide association studies (GWAS). (springer.com)
  • However PHS could be more advantageous than PRS of age specific AD risk predictions when SNPs are prioritized for association with AD age at onset (i.e., powerful Cox Regression GWAS study). (unicatt.it)
  • Some wheat populations, however, show much variation in acidic field tolerance that is not explained by known major Al tolerance loci. (usda.gov)
  • Complete genome sequences of two strains of Treponema pallidum subsp. (muni.cz)
  • This study was conducted to discover new loci that condition wheat's tolerance of low soil pH with the ultimate goal of DNA marker development for expedited tolerance breeding and selection. (usda.gov)
  • Hansen J, McBrayer MK, Robbins M, Suh Y. (2002) A pH Dependence Study on the Unfolding and Refolding of Apoazurin: Comparison with Zn Azurin. (umaryland.edu)
  • NGMLR and Sniffles are long-read sequencing analysis methods to study the longer fragments of DNA, a breakthrough that may yield critical information about how cancer genomes evolve. (agbt.org)
  • EGFR polymorphisms, hormone replacement therapy and lung adenocarcinoma risk: analysis from a genome-wide association study in never-smoking women. (nhri.org.tw)
  • A total of 13 stable quantitative trait loci (QTLs) were found to be highly associating to yield-related traits, including 6 for spike length (SL), 3 for thousand-kernel weight (TKW), 2 for kernel weight per spike (KWPS), and 2 for both TKW and KWPS, in at least two test environments under stripe rust stress conditions. (biomedcentral.com)
  • Thus, identifying loci associated with yield-related traits under stripe rust stress may provide favourable alleles and their useful markers for breeding wheat cultivars with high yield in combination with stripe rust resistance. (biomedcentral.com)
  • The YPP was significantly higher in genotypes which combined favourable marker alleles (FMAs) for root depth and PH, suggesting that a deep root and shorter plant height are suitable traits for pyramiding target alleles by molecular marker-assisted breeding. (cgiar.org)
  • Further analysis of its genome will help to identify traits promising for stress protection, biocontrol and plant growth promotion properties. (biomedcentral.com)
  • 2003). Assessing the role of the mitochondrial genome in type 2 diabetes mellitus and related traits in Finns. (umaryland.edu)
  • Paul's research is focused on comparative regulatory genomics, the evolution of transcriptional regulation and annotation of the non-coding genome. (agbt.org)
  • We assembled and aligned the S. haematobium sequences to the genomes of S. mansoni and S. japonicum , identifying microsatellite DNA loci across all three species and designing primers to amplify the loci in S. haematobium . (biomedcentral.com)
  • To identify the variant, a consortium of researchers first combined five separate genome wide association studies to survey each of the 3 billion base pairs in the DNA sequences of 1,283 individuals of European ancestry who experienced SCD, and more than 20,000 individuals without SCD. (sciencedaily.com)
  • CRISPR gene-editing technology is taking biology by storm," points Mark Behlke, M.D., Ph.D, chief scientific officer, Integrated DNA Technologies (IDT). (genengnews.com)
  • The relationship between genome structure/evolution and gene function. (uga.edu)
  • It is thought that the developmental program of gene expression at the locus is regulated by specific changes in chromatin structure (Williams et al. (bl.uk)
  • Identification of these 16 new loci may provide insight into the molecular mechanisms regulating pulmonary function and into molecular targets for future therapy to alleviate reduced lung function. (ox.ac.uk)
  • Plant genome structure and evolution, especially the nature of rearrangements and the contributions of transposable elements. (uga.edu)
  • Collection of large (several thousand strong) cohorts of SLE patients and their family members has allowed genome-wide association studies to proceed in this disease. (medscape.com)
  • Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder. (sfari.org)
  • Genome Instability & Disease, 2020. (ku.dk)
  • 10 Germline variants of IKZF1 are observed in familial B-ALL and immunodeficiency, 16 , 17 and somatic IKZF1 alterations are enriched in Philadelphia chromosome (Ph)-positive, Phlike, and DUX4 -rearranged B-ALL. (haematologica.org)
  • We tested genome-wide association with forced expiratory volume in 1 s (FEV(1)) and the ratio of FEV(1) to forced vital capacity (FVC) in the SpiroMeta consortium (n = 20,288 individuals of European ancestry). (ox.ac.uk)
  • He is currently head of the Ensembl project and has held leadership roles in data management activities for the 1000 Genomes Project, the International Human Epigenome Consortium (IHEC) and the International Mouse Phenotyping Consortium (IMPC). (agbt.org)
  • He is a co-founder of the Telomere-to-Telomere Consortium and the Vertebrate Genomes Project, which seek to enable the complete and gapless assembly of human and all other vertebrate genomes. (agbt.org)
  • The rapid evolution of complex disease resistance loci in plants. (uga.edu)
  • Genome Biology and Evolution. (elsevierpure.com)
  • 2004-2009: Ph.D. in Molecular Evolution. (lu.se)
  • Title of Doctorate: The Compositional Organization of Mammalian Genomes: Characteristics and Evolution. (lu.se)
  • About half of the primers in the database of Schistosoma haematobium microsatellite DNA loci should yield amplifiable and easily scored polymorphic markers, thus providing thousands of potential markers. (biomedcentral.com)
  • Deyana Lewis, PhD is a postdoctoral fellow at the National Human Genome Research Institute. (ashg.org)
  • By doing so I have examined the role each level of chromatin structure plays in regulating the human EDC and, characterised the relationships between the different levels across a large co-ordinately regulated locus in the human genome. (bl.uk)
  • By examining an unstable genome, Schatz identified almost 20,000 structural alterations - changes previously missed by other researchers when examining shorter DNA fragments. (agbt.org)
  • His lab develops efficient computational methods for analyzing DNA sequencing data, including tools for genome assembly, genome alignment, genome clustering, microbial forensics, and metagenomics. (agbt.org)
  • Her current project includes optimizing rare variant analysis techniques through machine learning across various disease phenotypes using whole exome and whole genome data. (ashg.org)
  • Most sessions focused on the latest genome-engineering tools and their diverse applications, from dissecting the cell's molecular mechanisms, to harnessing these mechanisms for whatever purposes that are deemed worthy. (genengnews.com)
  • Genomic analyses have revolutionized our understanding of the molecular taxonomy of ALL, and these advances have led the push to implement genome and transcriptome characterization in the clinical management of ALL to facilitate more accurate risk-stratification and, in some cases, targeted therapy. (haematologica.org)
  • Although mutation- or pathway-directed targeted therapy (e.g., using tyrosine kinase inhibitors to treat Philadelphia chromosome [Ph]-positive and Phlike B-cell-ALL) is currently available for only a minority of children with ALL, many of the newly identified molecular alterations have led to the exploration of approaches targeting deregulated cell pathways. (haematologica.org)
  • She obtained a Ph.D. in Biomedical Informatics with a focus in Human Genetics from Northwestern University where she performed research in uncovering rare and common variation underlying heart failure using longitudinal phenotyping in a medical biobank. (ashg.org)
  • The Epidermal Differentiation Complex (EDC) is a co-ordinately regulated locus that is evolutionarily conserved within mammals. (bl.uk)
  • The strain grows in complex media (LB, NBII), but not in Standard Succinate Medium (pH 7.0). (biomedcentral.com)
  • This too is encouraging and suggests that through further definition and understanding [of] these risk loci, new highly specific drug targets may be discovered having efficacy as both acute and preventive treatment of migraine," said Dr. Cady. (medicalnewstoday.com)
  • Interpretation Both PRS and PHS can be used to predict an age-specific risk for developing AD. (unicatt.it)
  • 10(-3), the age-specific risk prediction results are not significant for either PRS or PHS. (unicatt.it)
  • however, those loci had a lower significance level and a lower contribution to individual risk for SLE. (medscape.com)
  • The higher risk of SLE in women and men with Klinefelter syndrome may be associated with enhanced expression of toll-like receptor 7 (TLR7), a key pathogenic factor in SLE that is encoded on an X chromosome locus. (medscape.com)
  • Tricks of the genome-writing trade were freely exchanged at the first annual Genome Writers Guild conference entitled, "Realizing the Future: Genome Engineering," which was held at the University of Minnesota in July 2017. (genengnews.com)
  • Thirteen regions across nineteen genomes were qualitatively described, with phage repressor and terminase suggestive of previously confirmed phylogenetic relatedness at an integrated phage-based locus. (rutgers.edu)
  • Interacting DNA-encoded regulatory subsystems in the GENOME that coordinate input from activator and repressor TRANSCRIPTION FACTORS during development, cell differentiation, or in response to environmental cues. (bvsalud.org)
  • I am developing computational tools to trace and date ancient genomes. (lu.se)
  • Her lab has also worked on dissecting the function of transcription of repetitive loci within human centromeres. (wikipedia.org)