Search Results - "Boshe, Lacey"
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An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening
Published in The Journal of pediatrics (01-06-2019)“…To assess the performance of a standardized, age-based metric for scoring clinical actionability to evaluate conditions for inclusion in newborn screening and…”
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Journal Article -
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A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing
Published in Genetics in medicine (01-05-2016)“…As genome-scale sequencing is increasingly applied in clinical scenarios, a wide variety of genomic findings will be discovered as secondary or incidental…”
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Journal Article -
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Is “incidental finding” the best term?: a study of patients’ preferences
Published in Genetics in medicine (01-02-2017)“…There is debate within the genetics community about the optimal term to describe genetic variants unrelated to the test indication but potentially important…”
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Journal Article