Pediatric study using genome sequencing

This study used whole genome sequencing to assess genome variants from DNA from pediatric individuals seen in genetics clinic who were thought to have genetic conditions.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001008011	This is a set of 20 10X Genomics Chromium WGS	Illumina HiSeq 2500	1

Publications	Citations
Application of full-genome analysis to diagnose rare monogenic disorders. Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. NPJ Genom Med 6: 2021 77	18