Patient samples were chosen for inclusion in the project based on the following criteria:
Item
Patient samples were chosen for inclusion in the project based on the following criteria:
boolean
C1512693 (UMLS CUI [1,1])
C0370003 (UMLS CUI [1,2])
Families who had similar syndromic features were studied
Item
Families who had similar syndromic features were studied
boolean
C0015576 (UMLS CUI [1,1])
C5453017 (UMLS CUI [1,2])
C2348519 (UMLS CUI [1,3])
Patients, parents and other family members are available
Item
Patients, parents and other family members are available
boolean
C0470187 (UMLS CUI [1,1])
C0030705 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,3])
C0086282 (UMLS CUI [1,4])
DNA was available for use in whole genome or exome sequencing
Item
DNA was available for use in whole genome or exome sequencing
boolean
C0470187 (UMLS CUI [1,1])
C0012854 (UMLS CUI [1,2])
C3640076 (UMLS CUI [1,3])
C5575842 (UMLS CUI [1,4])
Informed consent documentation
Item
Informed consent documentation
boolean
C0021430 (UMLS CUI [1,1])
C0920316 (UMLS CUI [1,2])