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Initially, the sequencing was performed in a research setting at the Broad Institute (Cambridge, MA) and all reportable findings were confirmed in a Clinical Laboratory Improvement Amendments (CLIA -certified CLIA -certifiedtory at the Brigham and Woman's Hospital by a targeted panel or Sanger sequenclinical
Reportable findings can include individual findings (e.g., a disease carrier state) or population findings (e.g., an outbreak or cluster of illness).
In Connecticut, Campylobacter, Cryptosporidium, Cyclospora, shiga toxin-producing Escherichia coli (STEC), Giardia, Listeria, Salmonella, Shigella, Vibrio and Yersinia are laboratory reportable findings.
(ii) The proportion of individuals with IFs rapidly becomes asymptotic and self-limiting, even with the addition of many more highly penetrant AD condition/gene pairs to the list of reportable findings.
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Approximately 5% of all exomes in the NIH Undiagnosed Diseases Program familial cohort, and 8.8% of families in our cohort, had a reportable finding.
Our modeling of the ACMG Recommendations for Clinical Reporting of Incidental Findings confirms that a nontrivial percentage (1.5 6.5%) of screened individuals will have a significant reportable finding (Tables 2 and 3 ).
This study has two key findings: (i) The accuracy of variant annotation of the underlying genomic databases is a significant factor in the proportion of individuals who will be flagged with a reportable finding.
To this end, we report findings from a study that sought to understand the volume and nature of medical recommendations, following the receipt of reportable versus benign CMA results, for a cohort of children with developmental delay and/or congenital anomalies.
To count the number of reportable incidental findings per independent exome, one subject per family was selected randomly and the number of incidental findings in those subjects was counted.
Reportable population findings (e.g. disease outbreaks) are not covered as thoroughly in SNOMED.
Another variable in estimating the rate of reportable incidental findings is the thoroughness with which a disease and gene have been studied.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com