Elig.phs000415.v1.p1.1
Item
Each pedigree was selected based on the presence of multiple affected individuals either with TS or CT across at least two generations. Both affected individuals and unaffected relatives were recruited and assessed for the presence of TS and CT using a standardized, semi-structured interview, which has high clinical validity and reliability for the diagnosis of TS (κ=1.0) (TSAICG, Am J Hum Genet, 2007).
boolean
C1512693 (UMLS CUI [1,1])
C0030761 (UMLS CUI [1,2])
C0439064 (UMLS CUI [1,3])
C0079411 (UMLS CUI [1,4])
C4316741 (UMLS CUI [1,5])
C0040517 (UMLS CUI [1,6])
C0008701 (UMLS CUI [1,7])
C0086282 (UMLS CUI [2,1])
C1516048 (UMLS CUI [2,2])
C0040517 (UMLS CUI [2,3])
C0008701 (UMLS CUI [2,4])
C1255664 (UMLS CUI [2,5])
C0681913 (UMLS CUI [2,6])
Elig.phs000415.v1.p1.2
Item
For the current sequencing study, pedigrees with the strongest evidence for linkage on chromosome 2 were prioritized. Within pedigrees, individuals were chosen for sequencing based on the following criteria: *a)* affected individuals as distantly related as possible with the common haplotype(s) segregating in that pedigree; *b)* individuals with key recombination events. For branches of chromosome 2-linked families, where the chromosome 2 risk haplotype was not transmitted to an affected offspring, complete trios were selected with the goal of identifying TS causal variants elsewhere in the exome.
boolean
C0549179 (UMLS CUI [1,1])
C0030761 (UMLS CUI [1,2])
C3887511 (UMLS CUI [1,3])
C0023745 (UMLS CUI [1,4])
C3824730 (UMLS CUI [1,5])
C1561491 (UMLS CUI [2,1])
C0243161 (UMLS CUI [2,2])
C0443203 (UMLS CUI [2,3])
C0445223 (UMLS CUI [2,4])
C0205214 (UMLS CUI [2,5])
C0018591 (UMLS CUI [2,6])
C1561491 (UMLS CUI [3,1])
C0243161 (UMLS CUI [3,2])
C0034865 (UMLS CUI [3,3])
C0023745 (UMLS CUI [4,1])
C3824730 (UMLS CUI [4,2])
C0522477 (UMLS CUI [4,3])
C0150323 (UMLS CUI [4,4])
C0205419 (UMLS CUI [4,5])
C0040517 (UMLS CUI [4,6])
Elig.phs000415.v1.p1.3
Item
For the large pedigrees with little-or-no evidence for linkage on chromosome 2, complete trios with an affected parent were selected, as well as multi-generational lineages with a chain of affected individuals.
boolean
C0549177 (UMLS CUI [1,1])
C0030761 (UMLS CUI [1,2])
C0332125 (UMLS CUI [1,3])
C0023745 (UMLS CUI [1,4])
C3824730 (UMLS CUI [1,5])
C0205449 (UMLS CUI [2,1])
C0030705 (UMLS CUI [2,2])
C0522476 (UMLS CUI [2,3])
C0030551 (UMLS CUI [2,4])
C0439064 (UMLS CUI [3,1])
C0079411 (UMLS CUI [3,2])
C1881379 (UMLS CUI [3,3])
C0522476 (UMLS CUI [3,4])