2024
A genotyping array for the globally invasive vector mosquito, Aedes albopictus
Cosme L, Corley M, Johnson T, Severson D, Yan G, Wang X, Beebe N, Maynard A, Bonizzoni M, Khorramnejad A, Martins A, Lima J, Munstermann L, Surendran S, Chen C, Maringer K, Wahid I, Mukherjee S, Xu J, Fontaine M, Estallo E, Stein M, Livdahl T, Scaraffia P, Carter B, Mogi M, Tuno N, Mains J, Medley K, Bowles D, Gill R, Eritja R, González-Obando R, Trang H, Boyer S, Abunyewa A, Hackett K, Wu T, Nguyễn J, Shen J, Zhao H, Crawford J, Armbruster P, Caccone A. A genotyping array for the globally invasive vector mosquito, Aedes albopictus. Parasites & Vectors 2024, 17: 106. PMID: 38439081, PMCID: PMC10910840, DOI: 10.1186/s13071-024-06158-z.Peer-Reviewed Original ResearchConceptsWhole-genome sequencingLow-coverage whole-genome sequencingSNP chipRepetitive elementsGenomic analysisNative rangePatterns of genomic variationWhole-genome sequencing dataSNP chip genotypesPopulation genomic analysesProtein-coding genesLevels of admixtureOrigin of invasionNon-coding regionsPercentage of repetitive elementsGenotyping of samplesChip genotypesGenetic clustersAncestry analysisGenomic variationGenotyping arraysGenotyping platformsMendelian genesGenetic variationGenotyping methods
2020
Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma
AlDubayan S, Conway J, Camp S, Witkowski L, Kofman E, Reardon B, Han S, Moore N, Elmarakeby H, Salari K, Choudhry H, Al-Rubaish A, Al-Sulaiman A, Al-Ali A, Taylor-Weiner A, Van Allen E. Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma. JAMA 2020, 324: 1957-1969. PMID: 33201204, PMCID: PMC7672519, DOI: 10.1001/jama.2020.20457.Peer-Reviewed Original ResearchMeSH KeywordsCross-Sectional StudiesDeep LearningDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHigh-Throughput Nucleotide SequencingHumansMaleMelanomaMiddle AgedNeural Networks, ComputerPredictive Value of TestsProstatic NeoplasmsSensitivity and SpecificityConceptsAmerican College of Medical Genetics and GenomicsGermline genetic testingCancer predisposition genesDetection of pathogenic variantsVariant detection performanceACMG genesNegative predictive valuePositive predictive valuePathogenic variantsGenetic testingProstate cancer cohortCriterion reference standardVariant detectionMendelian genesProstate cancerCancer cohortGermline pathogenic variantsCross-sectional studyGenetic testing methodsGermline variant detectionMelanoma cohortPathogenic germline alterationsMain OutcomesConvenience cohortClinical data collection
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