Works matching DE "WHOLE genome sequencing"
Results: 5000
Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.
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- European Journal of Neurology, 2025, v. 32, n. 2, p. 1, doi. 10.1111/ene.70064
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- Article
Exploring the genetic driver events of eccrine poromas and porocarcinomas: a retrospective, cross-institutional study of 54 cases.
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- British Journal of Dermatology, 2025, v. 192, n. 4, p. 745, doi. 10.1093/bjd/ljae447
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- Article
Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.
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- International Journal of Cancer, 2025, v. 156, n. 7, p. 1393, doi. 10.1002/ijc.35283
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- Article
Utilizing whole genome sequencing to delineate relapse and reinfection tuberculosis on the Canadian prairies.
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- Canadian Journal of Respiratory, Critical Care, & Sleep Medicine, 2024, v. 8, n. 4, p. 168, doi. 10.1080/24745332.2024.2366310
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- Article
Two novel genetic variants in the WFDC2 gene from patients with bronchiectasis.
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- Respiratory Research, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12931-025-03183-z
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- Article
Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.
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- Clinical Genetics, 2025, v. 107, n. 3, p. 348, doi. 10.1111/cge.14653
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- Article
Genetic Analysis of Heterotaxy in a Consanguineous Cohort.
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- Clinical Genetics, 2025, v. 107, n. 2, p. 224, doi. 10.1111/cge.14641
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Whole‐genome sequencing analysis of Japanese autism spectrum disorder trios.
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- Psychiatry & Clinical Neurosciences, 2025, v. 79, n. 3, p. 87, doi. 10.1111/pcn.13767
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- Article
Glioma mutational signatures associated with haloalkane exposure are enriched in firefighters.
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- Cancer (0008543X), 2025, v. 131, n. 6, p. 1, doi. 10.1002/cncr.35732
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- Article
Comprehensive genomic analysis and selection signature detection in endangered Beigang pigs using whole‐genome sequencing data.
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- Animal Genetics, 2025, v. 56, n. 1, p. 1, doi. 10.1111/age.13502
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- Article
Novel insights into sheep domestication in Southwest Asia based on genome‐wide sequencing.
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- Animal Genetics, 2025, v. 56, n. 1, p. 1, doi. 10.1111/age.13500
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- Article
Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus.
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- Animal Genetics, 2025, v. 56, n. 1, p. 1, doi. 10.1111/age.13494
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- Article
Novel biallelic TK2 mutations cause mitochondrial DNA depletion syndrome with infantile early-onset lipid storage myopathy.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03639-x
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- Article
Comparative analysis of genotype imputation strategies for SNPs calling from RNA-seq.
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- BMC Genomics, 2025, v. 26, p. 1, doi. 10.1186/s12864-025-11411-5
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- Article
Genome mining the black-yeast Aureobasidium pullulans NRRL 62031 for biotechnological traits.
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- BMC Genomics, 2025, v. 26, p. 1, doi. 10.1186/s12864-025-11395-2
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- Article
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases.
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- Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-57695-9
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- Article
Typing of Echinococcus multilocularis by Region-Specific Extraction and Next-Generation Sequencing of the mitogenome.
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- Frontiers in Microbiology, 2025, p. 1, doi. 10.3389/fmicb.2025.1535628
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- Article
Virology, epidemiology, transmissions, diagnostic tests, prophylaxis and treatments of human Mpox: Saudi Arabia perspective.
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- Frontiers in Cellular & Infection Microbiology, 2025, p. 1, doi. 10.3389/fcimb.2025.1530900
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- Article
Next Generation Sequencing.
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- Indian Journal of Medical & Paediatric Oncology, 2021, v. 42, n. 3, p. 381, doi. 10.4103/ijmpo.ijmpo_28_20
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- Article
Identifying Myeloma Patients at Risk of Lenalidomide or Pomalidomide Resistance at Relapse: A New Opportunity.
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- Indian Journal of Medical & Paediatric Oncology, 2021, v. 42, n. 2, p. 180, doi. 10.1055/s-0041-1730090
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- Article
Predominant Pneumococcal Serotypes in Isolates Causing Invasive Disease in a Spanish Region: An Examination of Their Association with Clinical Factors, Antimicrobial Resistance, and Vaccination Coverage.
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- Journal of Clinical Medicine, 2025, v. 14, n. 5, p. 1612, doi. 10.3390/jcm14051612
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- Article
Avian-specific Salmonella transition to endemicity is accompanied by localized resistome and mobilome interaction.
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- eLife, 2025, p. 1, doi. 10.7554/eLife.101241
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- Article
Genome-wide scanning for genetic markers associated with anti-malarial drugs sensitivity of Plasmodium falciparum isolates from the China-Myanmar border region.
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- Malaria Journal, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12936-025-05319-4
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- Article
Molecular and biological characteristics of two rare bloodstream Candida isolates: Candida nonsorbophila and Candida sonorensis.
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- BMC Infectious Diseases, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12879-025-10696-x
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- Article
Status on Genetic Resistance to Rice Blast Disease in the Post-Genomic Era.
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- Plants (2223-7747), 2025, v. 14, n. 5, p. 807, doi. 10.3390/plants14050807
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- Article
Genome-Wide Identification and Expression Analysis of Heat Shock Transcription Factors in Camellia sinensis Under Abiotic Stress.
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- Plants (2223-7747), 2025, v. 14, n. 5, p. 697, doi. 10.3390/plants14050697
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- Article
Impact of Red Wine Vinegar-Based Solution on Bacterial Communities of Squid and Shrimp Skewers: A Classic and Genomic Approach.
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- Food & Bioprocess Technology, 2025, v. 18, n. 4, p. 3761, doi. 10.1007/s11947-024-03685-6
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- Article
Whole-genome sequencing-based species classification, multilocus sequence typing, and antibiotic resistance mechanisms of the clinical Aeromonas complex.
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- Frontiers in Microbiology, 2025, p. 1, doi. 10.3389/fmicb.2025.1473150
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- Article
Correction to "Genome‐wide population affinities and signatures of adaptation in hydruntines, sussemiones and Asian wild asses".
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- 2025
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- Correction Notice
Immunogenicity of monkeypox virus surface proteins and cross-reactive antibody responses in vaccinated and infected individuals: implications for vaccine and therapeutic development.
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- Infectious Diseases of Poverty, 2025, v. 14, n. 1, p. 1, doi. 10.1186/s40249-025-01280-1
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- Article
Insights into the evolution and mechanisms of response to heat stress by whole genome sequencing and comparative proteomics analysis of the domesticated edible mushroom Lepista sordida.
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- Mycology: An International Journal on Fungal Biology, 2025, v. 16, n. 1, p. 324, doi. 10.1080/21501203.2024.2363620
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- Article
Investigation of selection signatures of dairy goats using whole-genome sequencing data.
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- BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11437-9
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- Article
Genomic and phenotypic characterisation of Pseudomonas aeruginosa isolates from canine otitis externa reveals high-risk sequence types identical to those found in human nosocomial infections.
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- Frontiers in Microbiology, 2025, p. 1, doi. 10.3389/fmicb.2025.1526843
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- Article
Dissemination of Staphylococcus epidermidis in Swedish bovine dairy herds: minimal overlap with human isolates.
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- Frontiers in Microbiology, 2025, p. 1, doi. 10.3389/fmicb.2025.1512461
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- Article
Characterization and genomic analysis of Sharanji: a jumbo bacteriophage of Escherichia coli.
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- Virology Journal, 2025, v. 22, n. 1, p. 1, doi. 10.1186/s12985-025-02646-5
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- Article
Rare pathogenic structural variants show potential to enhance prostate cancer germline testing for African men.
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- Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-57312-9
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- Article
Epidemiology and genetic diversity of classic human astrovirus with whole-genome sequence analysis in inpatient children under 5 years of age in Yunnan, China.
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- BMC Infectious Diseases, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12879-025-10708-w
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- Article
Whole-genome sequencing of Salmonella serovars isolated from diarrheic and non-diarrheic foals.
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- Journal of Veterinary Diagnostic Investigation, 2025, v. 37, n. 2, p. 363, doi. 10.1177/10406387251316314
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- Article
Corrigendum to: Oxytetracycline-resistant Paenibacillus larvae identified in commercial beekeeping operations in Saskatchewan using pooled honey sampling.
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- 2025
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- Correction Notice
Female space use correlates with extra-pair mating in barn swallow replacement clutches.
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- Behavioral Ecology & Sociobiology, 2025, v. 79, n. 2, p. 1, doi. 10.1007/s00265-025-03570-y
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- Article
Low-coverage whole genome sequencing of cell-free DNA to predict and track immunotherapy response in advanced non-small cell lung cancer.
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- Journal of Experimental & Clinical Cancer Research (17569966), 2025, v. 44, n. 1, p. 1, doi. 10.1186/s13046-025-03348-0
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- Article
Whole genome sequencing identifies exotoxin and antimicrobial resistance profiles of Staphylococcus aureus from Maine dairy farms.
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- BMC Veterinary Research, 2025, v. 21, n. 1, p. 1, doi. 10.1186/s12917-025-04630-1
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- Article
First detection and molecular characterization of Chaphamaparvovirus galliform in broiler and turkey flocks in Türkiye.
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- BMC Veterinary Research, 2025, v. 21, n. 1, p. 1, doi. 10.1186/s12917-025-04612-3
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- Article
African swine fever virus vaccine strain Asfv-G-∆I177l reverts to virulence and negatively affects reproductive performance.
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- NPJ Vaccines, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41541-025-01099-9
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- Article
Congenital Hypopituitarism: Current Agnostic Genetics Faces Its Limits.
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- Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 3, p. e903, doi. 10.1210/clinem/dgae361
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- Article
Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trénaunay Syndrome.
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- 2021
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- Case Study
Genomic characterisation and traceability analysis of a Clostridium botulinum strain involved in a food poisoning incident.
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- BMC Infectious Diseases, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12879-025-10700-4
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- Article
Development of a high-throughput MassARRAY-based single assay for the characterization of Streptococcus suis species and serotypes.
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- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-92524-5
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- Article
Identification of potential susceptibility loci for non-small cell lung cancer through whole genome sequencing in circadian rhythm genes.
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- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-92083-9
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- Article
Calculating maternal polygenic risk scores from prenatal screening by cell-free DNA data.
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- Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1495604
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- Article