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Genomicsena-DATASET-CIPF-CG-11-09-2014-13:53:44:368-69 - samples
The need for a detailed catalogue of local variability for the study of rare diseases within the context of the Medical Genome Project motivated the whole exome sequencing of 267 unrelated individuals, representative of the healthy Spanish population.
EGAD00001001012 | EGA
Genomicsena-DATASET-CIPF-CG-30-11-2016-16:37:38:797-425 - samples
The need for a detailed catalogue of local variability for the study of rare diseases within the context of the Medical Genome Project motivated the whole exome sequencing of 267 unrelated individuals, representative of the healthy Spanish population.
EGAD00001003101 | EGA
GenomicsWhole Exome Sequencing of healthy Spanish individuals
The need for a detailed catalogue of local variability for the study of rare diseases within the context of the Medical Genome Project motivated the whole exome sequencing of 267 unrelated individuals, representative of the healthy Spanish population.
EGAS00001000938 | EGA
GenomicsMGP Spanish controls
Data Access Committee EGAC00001000222
EGAC00001000222 | EGA
TranscriptomicsAffymetrix SNP array data for short-segment Hirschsprung trios
Finding gene associations in rare diseases is frequently hampered by the reduced numbers of patients accessible. Conventional gene-based association tests rely on the availability of large cohorts, which constitutes a serious limitation for its application in this scenario. To overcome this problem ...
ORGANISM(S): Homo sapiens 
2012-03-18 | E-GEOD-33732 | biostudies-arrayexpress
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