Homo sapiens
Female
single organism
Asian
SD 54G4WG4R
not Hispanic or Latino
CHARGE syndrome
2026Q3 C2M2 datapackage.zip
Kids First
Label
Description
Hypotonia
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a mus...
BS 9H71VXE6
A biosample from Kids First produced as part of the SD 54G4WG4R project
Autistic behavior
Persistent deficits in social interaction and communication and interaction as well as a markedly re...
f7b7ba8e-0233-49c6-92df-38a2d18ec53c.variant calling summary metrics
A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project
f7b7ba8e-0233-49c6-92df-38a2d18ec53c.multi.vqsr.filtered.denovo.vep 105.vcf.gz.tbi
f7b7ba8e-0233-49c6-92df-38a2d18ec53c.variant calling detail metrics
f7b7ba8e-0233-49c6-92df-38a2d18ec53c.peddy.ped check.csv
f7b7ba8e-0233-49c6-92df-38a2d18ec53c.peddy.sex check.csv
f7b7ba8e-0233-49c6-92df-38a2d18ec53c.peddy.peddy.ped
f7b7ba8e-0233-49c6-92df-38a2d18ec53c.peddy.het check.csv