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UnknownDeep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants
Not available
S-SCDT-10_1038-S44320-024-00043-8 | biostudies-other
GenomicsEGAS00001000775-sc-2023-03-15T11:18:45Z - samples
Candidate diagnostic variants reported into DECIPHER by 4 April 2022, annotated with clinical and automated pathogenicity assertions (see DOI: 10.1056/NEJMoa2209046). Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland, Wright et al, NEJM 2023.
EGAD00001010137 | EGA
GenomicsGSA QCed data
QC-ed data of 9,534 DDD Study participants, including 8,879 individuals with inferred GBR ancestry. Details of genotype QC can be found in https://www.medrxiv.org/content/10.1101/2023.04.20.23288860v1.full.pdf. Genome builds are indicated in the file name. Related individuals have not been removed. ...
EGAD00010002568 | EGA
GenomicsSC_DDD-G-4
Post-QC (pre-imputation) genotype data for N=6,983 DDD probands included in the neurodevelopmental disorder discovery GWAS (Niemi et al., Nature 2018). Consists of filtered set of samples and variants from EGAD00010001598 and EGAD00010001600. Includes patient HPO phenotype terms and GWAS summary sta...
EGAD00010001604 | EGA
GenomicsSC_DDD-G-3
Unfiltered genotype data for DDD Study trios (patient and parents) (N=2,166 samples), some of which were used for replication of neurodevelopmental disorder polygenic risk (Niemi et al., Nature 2018). Samples were genotyped on the Illumina HumanOmniExpress BeadChip
EGAD00010001602 | EGA
Genomicsena-DATASET-SC-30-04-2015-15:06:30:503-5 - samples
DDD DATAFREEZE 2013-12-18: 1133 trios - VCF files (Ref: DDD Nature 2015)
EGAD00001001355 | EGA
GenomicsGSA pilot raw data
Unfiltered genotype data for a pilot study (Batch 1) of 1,140 DDD Study participants (and 12 "Empty" samples). Samples include 380 mothers, 382 fathers and 378 probands, and form 376 trios. Most of the probands have been previously genoyped on the llumina HumanCoreExome BeadChip (EGAD00010...
EGAD00010002567 | EGA
GenomicsEGAS00001000775-sc-20161028 - samples
DDD DATAFREEZE 2014-11-04: 4293 trios - exome sequence CRAM files
EGAD00001002748 | EGA
GenomicsEGAS00001000775-sc-20151204 - samples
DDD DATAFREEZE 2014-11-04: 4293 trios - VCF files
EGAD00001001848 | EGA
GenomicsEGAS00001000775-sc-20181010 - samples
DDD DATAFREEZE 2017-12-15: 13,462 trios and probands only - phenotypic and family descriptions
EGAD00001004388 | EGA
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