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Clinical exome sequencing: results from 2819 samples reflecting 1000 families

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Clinical exome sequencing: results from 2819 samples reflecting 1000 families

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5255946

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

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England: Nature Publishing Group

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Contents

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. WES processes were performed according to standardized settings. We identified the underlying pathogenic or likely pathogenic varia...

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Clinical exome sequencing: results from 2819 samples reflecting 1000 families

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Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5255946

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5255946

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ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/ejhg.2016.146

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