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GenomicsBenchmark and validation of whole exome sequencing of a trio and singleton
Whole exome paired-end sequencing data was obtained for a trio and a fourth unrelated individual sequenced to high depth (95x) using a paired-end library with the Illumina HiSeq platform and aligned by BWA 0.5.9. The bam files were analysed and experimentally vaidated for the novel insertion of mobi...
EGAS00001000852 | EGA
GenomicsDepartment of Human Genetics, Radboud University Nijmegen Medical Centre, Data Access Committee
Data Access Committee EGAC00001000076
EGAC00001000076 | EGA
GenomicsLeiden Longevity Study Data Access Committee
Data Access Committee EGAC00001000210
EGAC00001000210 | EGA
Genomicsena-DATASET-RUNMC-17-07-2014-15:19:55:636-69 - samples
Illumina HiSeq paired-end exome sequencing of a trio and singleton.
EGAD00001000883 | EGA
GenomicsEGAS00001000775-sc-20180926 - samples
DDD DATAFREEZE 2017-12-15: 13,462 trios and probands only - exome sequence VCF files
EGAD00001004389 | EGA
GenomicsEGAS00001000775-sc-20181010 - samples
DDD DATAFREEZE 2017-12-15: 13,462 trios and probands only - phenotypic and family descriptions
EGAD00001004388 | EGA
GenomicsEGAS00001000775-sc-20181009 - samples
DDD DATAFREEZE 2017-12-15: 13,462 trios and probands only - exome sequence CRAM files
EGAD00001004390 | EGA
GenomicsData Access Committee for Deciphering Developmental Disorders (DDD) Project
Data Access Committee EGAC00001000282
EGAC00001000282 | EGA
GenomicsDDD_Project_4296_Trio - samples
SNP-chip genotyping data for one proband in the DDD study (Ref : Carvalho AJHG 2015)
EGAD00010000702 | EGA
GenomicsSC_DDD-G-2
Batch 2 of unfiltered genotype for DDD Study patients (N=8,286), some of which were used in the neurodevelopmental disorder discovery GWAS (Niemi et al., Nature 2018). Samples were genotyped on the Illumina InfiniumCoreExome Beadchip. QC'd data is available in release EGAD00010001604
EGAD00010001600 | EGA
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