To assess the ability to recapitulate known results, whole genome sequencing was performed retrospectively on two infants with molecular diagnoses that had previously been identified by clinical testing. These samples (UDXXXX) were selected from a validation set of 384 samples with known molecular diagnoses for one or more genetic diseases.
Item
To assess the ability to recapitulate known results, whole genome sequencing was performed retrospectively on two infants with molecular diagnoses that had previously been identified by clinical testing. These samples (UDXXXX) were selected from a validation set of 384 samples with known molecular diagnoses for one or more genetic diseases.
boolean
C4744597 (UMLS CUI [1,1])
C1516048 (UMLS CUI [1,2])
C3640076 (UMLS CUI [1,3])
C1514923 (UMLS CUI [1,4])
C0021270 (UMLS CUI [1,5])
C1513388 (UMLS CUI [1,6])
C5236074 (UMLS CUI [1,7])
C1516634 (UMLS CUI [1,8])
C1519941 (UMLS CUI [2,1])
C0150098 (UMLS CUI [2,2])
C1513388 (UMLS CUI [2,3])
C0019247 (UMLS CUI [2,4])
To assess the potential diagnostic use of WGS, sequencing was prospectively performed on four undiagnosed newborns with clinical presentations that strongly suggested a genetic disorder as well as one affected sibling and their unaffected parents. Seven prospective samples were selected from families with probands that presented in infancy, among 143 individuals without molecular diagnoses who were enrolled between November 2011 and April 2012 for exome or genome sequencing.
Item
To assess the potential diagnostic use of WGS, sequencing was prospectively performed on four undiagnosed newborns with clinical presentations that strongly suggested a genetic disorder as well as one affected sibling and their unaffected parents. Seven prospective samples were selected from families with probands that presented in infancy, among 143 individuals without molecular diagnoses who were enrolled between November 2011 and April 2012 for exome or genome sequencing.
boolean
C1516048 (UMLS CUI [1,1])
C3245505 (UMLS CUI [1,2])
C0430022 (UMLS CUI [1,3])
C3640076 (UMLS CUI [1,4])
C0033522 (UMLS CUI [1,5])
C0021289 (UMLS CUI [1,6])
C2708283 (UMLS CUI [1,7])
C0019247 (UMLS CUI [1,8])
C0037047 (UMLS CUI [1,9])
C0392760 (UMLS CUI [1,10])
C2986417 (UMLS CUI [1,11])
C0030551 (UMLS CUI [1,12])
C0021289 (UMLS CUI [2,1])
C0332288 (UMLS CUI [2,2])
C1513388 (UMLS CUI [2,3])
C3640077 (UMLS CUI [2,4])
C3640076 (UMLS CUI [2,5])