CINECA Services Registry

Biosamples Biosample SAMN03283350 Individuals of biosample SAMN03283350 Variants of biosample SAMN03283350 Individuals Individual NA24631 Biosamples of individual NA24631 Variants of individual NA24631 Variants variant 1325 Biosamples of variant 1325 Individuals of variant 1325

Biosample SAMN03283350 in phenopacket format Individual NA24631 in phenopacket format Variant 1325 in phenopacket format Variant 1325 in VR format

SNP query Biosamples with this SNP Individuals with this SNP Region query [1-200] Structural variant - exact match [GRCh37.p1 chr21 42809489-42809491] Structural variant - fuzzy match (start in [42809489,4280949] and end in [42809490,42809491])

User queries public datasets: returns 2 rows for any user User queries all datasets: unauthenticated user returns 2 rows, user john 6 rows, jane 4 rows

Individuals by phenotypic feature (Hypercholesterolemia) (1 result) Individuals by phenotypic feature (blood clot) and sex (female) (no results) Individuals by phenotypic feature (blood clot) and sex (male) (1 result) Individuals by sex=male (2 results) Individuals by sex=female (1 result) Biosamples by origin (blood) (3 results) Biosamples by origin (blood) and individual phenotypic feature (Hypercholesterolemia) (1 result) Variants of individuals with phenotypic feature (Hypercholesterolemia) Individuals by pedigree Id

Beacon Info Beacon Info using GA4GH Service-info schema GA4GH Service-info GA4GH service-info (alternative)

Beacon Datasets Beacon Filtering Terms