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
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