2016
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
Ruderfer DM, Hamamsy T, Lek M, Karczewski KJ, Kavanagh D, Samocha KE, Daly M, MacArthur D, Fromer M, Purcell S. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nature Genetics 2016, 48: 1107-1111. PMID: 27533299, PMCID: PMC5042837, DOI: 10.1038/ng.3638.Peer-Reviewed Original ResearchConceptsGenic copy number variantsHuman genetic variationExome Aggregation ConsortiumRare copy number variationsCopy number variationsCopy number variantsExome sequencing dataGenetic variationGenic intoleranceHuman exomeSequencing dataPersonal genomesNumber variationsNumber variantsGenomeIntegrated databaseExomeVariationVariantsConsortium
2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned
Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O’Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. JAMA Neurology 2015, 72: 1424-1432. PMID: 26436962, DOI: 10.1001/jamaneurol.2015.2274.Peer-Reviewed Original ResearchConceptsLGMD-related genesLimb-girdle muscular dystrophyWhole-exome sequencingMyopathy genesBiopsy specimensDiagnostic rateMutations of CHD7Follow-up screeningMuscular dystrophyAccurate clinical examinationLikely pathogenic mutationsMuscle biopsy specimensTubular aggregate myopathyCongenital myasthenic syndromeGenetic diagnosisDiagnostic success rateNeuromuscular clinicMuscle weaknessMyopathic changesClinical examinationHistopathological resultsAncillary investigationsMyasthenic syndromeCommon causeDiagnostic yield