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GenomicsEGAS00001000167-sc-20150720 - samples
This project is to explore the contribution of de novo mutations to severe structural malformations diagnosed prenatally using ultrasound. These malformations include heart, CNS, renal and GI abnormalities. In this pilot project we aim to exome sequence 30 parent-foetus trios to ~50X mean coverage a...
EGAD00001001442 | EGA
GenomicsAbnormal foetal development exome trios
This project is to explore the contribution of de novo mutations to severe structural malformations diagnosed prenatally using ultrasound. These malformations include heart, CNS, renal and GI abnormalities. In this pilot project we aim to exome sequence 30 parent-foetus trios to ~50X mean coverage a...
EGAS00001000167 | EGA
TranscriptomicsComparative genomic hybridization of samples from 30 humans and 30 chimpanzees to survey copy number variation in these species
Sixty-one array-CGH experiments were performed on the human WGTP platform, comparing: (1) 30 unrelated chimpanzees to a single chimpanzee reference individual, (2) 30 unrelated humans to a single human reference individual and (3) the chimpanzee reference individual to the human reference individual...
ORGANISM(S): Pan troglodytes 
2008-08-28 | E-TABM-479 | biostudies-arrayexpress
GenomicsMRC HGU IGMM Edinburgh DAC
Data Access Committee EGAC00001000393
EGAC00001000393 | EGA
GenomicsSCOOP Affymetrix v6 - samples
SCOOP severe early-onset obesity cases
EGAD00010000594 | EGA
GenomicsGenome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity
We performed SNP and copy number variation (CNV) association analyses in 1,509 children with obesity at the extreme tail (>3 s.d. from the mean) of the BMI distribution and 5,380 controls. The control samples were made available from the EGA with accession numbers EGAD00000000021 and EGAD00000000023...
EGAS00001000878 | EGA
GenomicsData Access Committee for Deciphering Developmental Disorders (DDD) Project
Data Access Committee EGAC00001000282
EGAC00001000282 | EGA
Genomicsena-DATASET-MRCHGUIGMM-07-10-2015-09:16:27:050-356 - samples
BAM files for two WES TRAIP patients
EGAD00001001633 | EGA
GenomicsTRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
DNA lesions encountered by replicative polymerases threaten genome stability and cell cycle progression. Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism/Seckel syndrome. We establish that TRAIP relocali...
EGAS00001001501 | EGA
TranscriptomicsComparative genomic hybridization of DNA from humans from different populations in self-self hybridizations, replicate experiments and independent validations of copy number variations to assess array performance
Data generated in the validation of a large-insert clone DNA microarray covering the entire human genome in tiling path resolution, which we have used to identify copy number variation in human populations. Array performance was extensively tested by a series of validation assays. These included...
ORGANISM(S): Homo sapiens 
2006-08-14 | E-TABM-123 | biostudies-arrayexpress
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