P254_MultiGenePoolSeq (None) 6
Name
Label
Description
Unit
DataType
None
Sanger sequencing confirmation of individual detected to be carrier by next generation sequencing. Yes = carrier confirmed by Sanger sequencing Not seen in all participants; No = Pool was positive for variant but both NGS and Sanger sequencing confirm that no individuals are carriers
Text
None
Target capture stable variant id: chromosome; position and alleles using GRCh38 coordinates.
Text