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Characterizing Genetic Variants for Clinical Action
Download from www.researchgate.netACMG clinical laboratory standards for next-generation sequencing
Download from www.nature.comACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing
Download from www.nature.comWe screen newborns, don’t we?: realizing the promise of public health genomics
Download from www.nature.comExome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
Download from doi.orgComprehensive molecular portraits of human breast tumours
Download from www.nature.comAn informatics approach to analyzing the incidentalome
Download from www.nature.comExploring Concordance and Discordance for Return of Incidental Findings from Clinical Sequencing
Download from www.nature.comDnmt3a is essential for hematopoietic stem cell differentiation
Download from www.ncbi.nlm.nih.govClinically Relevant Changes in Family History of Cancer Over Time
Download from doi.orgCopy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
Download from academic.oup.com22q13.3 Deletion Syndrome: Clinical and Molecular Analysis Using Array CGH
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