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Data · dataset · 2019

Verification of NGS findings by Sanger sequencing

Listed in DataCite

These data include verification analyses of targeted NGS findings using Sanger sequencing.Family-based approach: 2 affected probands (1,2), one healthy brother (3), mother, father.

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Stated by source
Basic medicine · Basic medicine
Inferred from text
Clinical sciences 74% · Sequencing 75%
Provenance · 2 source records, 12 field assertions
SourceKeyLast seenRaw
DataCite10.6084/m9.figshare.866780014 d agoJSON v1
DataCite10.6084/m9.figshare.8667800.v114 d agoJSON v1
FieldAssertionExtractorEvidence
access_levelsource · DataCiteconnector:datacite@1.0.0/data/attributes/rightsList
byte_sizesource · DataCiteconnector:datacite@1.0.0
concepts[field].anzsrc:group:3202enrichment · DataCitetaxonomy-embedding@1.1.0title+keywords+description (74%)
concepts[field].fos:basic-medicinesource · DataCiteconnector:datacite@1.0.0
concepts[field].fos:basic-medicinesource · DataCiteconnector:datacite@1.0.0
concepts[modality].local:modality:sequencingenrichment · DataCitekeyword-concept-rules@1.0.0title+description (75%)
created_datesource · DataCiteconnector:datacite@1.0.0
descriptionsource · DataCiteconnector:datacite@1.0.0/data/attributes/descriptions
licensesource · DataCiteconnector:datacite@1.0.0/data/attributes/rightsList
publication_datesource · DataCiteconnector:datacite@1.0.0/data/attributes/dates
titlesource · DataCiteconnector:datacite@1.0.0/data/attributes/titles/0/title
updated_datesource · DataCiteconnector:datacite@1.0.0