Elig.phs000288.v2.p2.1
Item
Inclusion criteria:
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs000288.v2.p2.2
Item
Proband from a family in which parents are 1st or 2nd degree cousins and there is two or more affected individuals in the family.
boolean
C0030551 (UMLS CUI [1,1])
C1517194 (UMLS CUI [1,2])
C1519210 (UMLS CUI [1,3])
C3844700 (UMLS CUI [2,1])
C0086282 (UMLS CUI [2,2])
C0522476 (UMLS CUI [2,3])
Elig.phs000288.v2.p2.3
Item
The known genes involved in any similar disease have been excluded, either based upon direct sequencing of the gene, or by excluding the locus.
boolean
C2828389 (UMLS CUI [1,1])
C0017337 (UMLS CUI [1,2])
C3899368 (UMLS CUI [1,3])
C2828389 (UMLS CUI [2,1])
C0017337 (UMLS CUI [2,2])
C1708726 (UMLS CUI [2,3])
Elig.phs000288.v2.p2.4
Item
There is adequate quantity of gDNA for analysis.
boolean
C0205411 (UMLS CUI [1,1])
C1265611 (UMLS CUI [1,2])
C3272453 (UMLS CUI [1,3])
Elig.phs000288.v2.p2.5
Item
Exclusion criteria:
boolean
C0680251 (UMLS CUI [1,1])
Elig.phs000288.v2.p2.6
Item
The individual DNA samples from the family must pass strict quality control steps to include: High quality DNA based upon OD 260/280 ratio, each sample must type properly for the assigned sex of the individual based upon X- and Y-chromosom markers, and each sample must show correct inheritance of polymorphic markers within the family.
boolean
C0205250 (UMLS CUI [1,1])
C0332306 (UMLS CUI [1,2])
C0012854 (UMLS CUI [1,3])
C0012854 (UMLS CUI [2,1])
C2349182 (UMLS CUI [2,2])
C0017393 (UMLS CUI [2,3])
C0079399 (UMLS CUI [2,4])
C0012854 (UMLS CUI [3,1])
C2349182 (UMLS CUI [3,2])
C0728826 (UMLS CUI [3,3])
C0796346 (UMLS CUI [3,4])
Elig.phs000288.v2.p2.7
Item
The family must not show a single linkage peak from genome-wide microarray data (otherwise we would use target-capture to identify the gene mutation).
boolean
C1298908 (UMLS CUI [1,1])
C0023745 (UMLS CUI [1,2])
C3702387 (UMLS CUI [1,3])