Genomic

Dataset Information

0

Whole Exome Sequence of 184 Individuals with 22q11.2 Deletion Syndrome


ABSTRACT:

Our goal is to find genetic modifiers of major phenotypes in patients with 22q11.2 deletion syndrome, also known as DiGeorge syndrome or velo-cardio-facial syndrome. Whole exome sequencing was performed as part of a contract to the NHLBI, Resequencing and Genotyping Service. We have obtained cardiac phenotype information from the de-identified subjects enrolled in the study, either by echocardiography report or medical doctor report. All of the subjects have a 3 million base pair 22q11.2 deletion flanked by low copy repeats, LCR22, A-D.

PROVIDER: phs000987 | dbGaP |

SECONDARY ACCESSION(S): PRJNA295109PRJNA295110

REPOSITORIES: dbGaP

Dataset's files

Source:

Similar Datasets

2014-05-21 | GSE30980 | GEO
2014-05-21 | GSE35013 | GEO
2014-05-21 | E-GEOD-35013 | biostudies-arrayexpress
2010-08-28 | E-GEOD-23834 | biostudies-arrayexpress
2010-08-28 | GSE23834 | GEO
2014-05-20 | E-GEOD-57775 | biostudies-arrayexpress
2010-05-26 | E-GEOD-10189 | biostudies-arrayexpress
2008-02-17 | GSE10189 | GEO
2010-07-30 | E-GEOD-22651 | biostudies-arrayexpress
2015-08-18 | GSE72114 | GEO