2020
Mapping and characterization of structural variation in 17,795 human genomes
Abel HJ, Larson DE, Regier AA, Chiang C, Das I, Kanchi KL, Layer RM, Neale BM, Salerno WJ, Reeves C, Buyske S, Matise T, Muzny D, Zody M, Lander E, Dutcher S, Stitziel N, Hall I. Mapping and characterization of structural variation in 17,795 human genomes. Nature 2020, 583: 83-89. PMID: 32460305, PMCID: PMC7547914, DOI: 10.1038/s41586-020-2371-0.Peer-Reviewed Original ResearchConceptsStructural variantsWhole-genome sequencingHuman genomeUltra-rare structural variantsRare structural variantsSuch structural variantsSingle nucleotide variantsNoncoding elementsDosage sensitivityGenomeHuman geneticsSmall insertionsComplex rearrangementsDeletion variantsSmall variantsStructural variationsGenesSequencingAllelesForm of variationVariantsElement classesSite frequency dataDeleterious effectsGenetics
2019
Genomic Analysis in the Age of Human Genome Sequencing
Lappalainen T, Scott AJ, Brandt M, Hall IM. Genomic Analysis in the Age of Human Genome Sequencing. Cell 2019, 177: 70-84. PMID: 30901550, PMCID: PMC6532068, DOI: 10.1016/j.cell.2019.02.032.Peer-Reviewed Original ResearchMeSH KeywordsBiological Specimen BanksChromosome MappingGenetic Predisposition to DiseaseGenetic TestingGenetic VariationGenome, HumanGenome-Wide Association StudyGenomicsHigh-Throughput Nucleotide SequencingHuman Genome ProjectHumansPolymorphism, Single NucleotideSequence Analysis, DNAWhole Genome SequencingConceptsFunctional genomics approachAllele frequency spectrumHuman genome sequencingGene mapping studiesGenome sequencing technologiesRare human diseasesWhole-genome sequencingGenomic approachesGenetic variant discoveryGenome variationHuman genomeGenome analysisGenomic analysisSequencing technologiesGenome sequencingVariant discoveryHuman diseasesHuman geneticsGenomeFunctional interpretationMapping studiesFunctional effectsSequencingGermline variantsGenetics
2017
Using Cloning to Amplify Neuronal Genomes for Whole-Genome Sequencing and Comprehensive Mutation Detection and Validation
Hazen J, Duran M, Smith R, Rodriguez A, Martin G, Kupriyanov S, Hall I, Baldwin K. Using Cloning to Amplify Neuronal Genomes for Whole-Genome Sequencing and Comprehensive Mutation Detection and Validation. Neuromethods 2017, 131: 163-185. DOI: 10.1007/978-1-4939-7280-7_9.Peer-Reviewed Original ResearchNeuronal genomeSomatic cell nuclear transferEmbryonic cell lineClasses of mutationsEmbryonic stem cellsSequencing-based approachesCell nuclear transferSomatic mutationsWhole-genome sequencingNext-generation sequencingMutation detectionSomatic cellsBioinformatics methodsComprehensive mutation detectionNuclear transferIndividual mutationsGenomeCell typesStem cellsNew mutationsMutationsSingle cellsSequencingCell linesFalse positive calls
2012
Whole Genome Sequencing Reveals Novel Recurring Somatic Mutations Affecting HUWE1 and DIAPH2 Genes in Multiple Myeloma
Tomasson M, Shen D, Hucthagowder V, Schierding W, Mullins C, Fiala M, Hall I, Wallis J, Fulton R, Fulton L, Kulkarni S, Mardis E, Wilson R, Ley T, DiPersio J, Maher C, Vij R, Ding L. Whole Genome Sequencing Reveals Novel Recurring Somatic Mutations Affecting HUWE1 and DIAPH2 Genes in Multiple Myeloma. Blood 2012, 120: 320. DOI: 10.1182/blood.v120.21.320.320.Peer-Reviewed Original ResearchMultiple myelomaMM patientsPeripheral bloodNormal controlsB cellsTumor cellsImportant clinical correlationsWhole-genome sequencingAbnormal B cellsSingle nucleotide variantsSodium-activated potassium channelsCommon driver mutationsPlasma B cellsChromosomal translocationsMalignant cell populationNon-hyperdiploid multiple myelomaIncurable malignancyClinical correlationWG casesPatientsEarly genetic eventsDisease pathogenesisNovel translocationDriver mutationsPotassium channels