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GenomicsNon-invasive whole genome sequencing of a human fetus

The overall purpose of this study was to demonstrate the feasibility of producing haplotype-phased whole genome sequence data from a fetus using free fetal DNA isolated from maternal plasma collected during the first half of gestation.

phs000500.v1.p1 | EGA
UnknownApplication of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
Not available
S-EPMC4601528 | biostudies-literature
GenomicsGenome wide association study of Coeliac Disease
We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with P(GWAS) < 10(-4) and 18 SNPs from 14 known loci in a further 4,918 cases and 5,684 controls. Variants from 13 new regions r...
EGAS00000000057 | EGA
GenomicsFinnuncorrNLITUK1UK3hap300 - samples
All cases and controls (Hap300)
EGAD00010000298 | EGA
GenomicsFinnuncorrNLITUK3hap550_onlyNBS - samples
NBS control samples only (Hap550)
EGAD00010000290 | EGA
GenomicsFinnuncorrNLITUK1UK3hap300_no1958BC_noNBS - samples
All cases and Finnish, Dutch, Italian control samples (Hap300)
EGAD00010000292 | EGA
GenomicsFinnuncorrNLITUK3hap550_only1958BC - samples
1958BC control samples only (Hap550)
EGAD00010000296 | EGA
GenomicsFinnuncorrNLITUK3hap550_no1958BC_noNBS - samples
All cases and Finnish, Dutch, Italian control samples (Hap550)
EGAD00010000288 | EGA
GenomicsFinnuncorrNLITUK1UK3hap300_onlyNBS - samples
NBS control samples only (Hap300)
EGAD00010000284 | EGA
GenomicsFinnuncorrNLITUK3hap550 - samples
All cases and controls (Hap550)
EGAD00010000286 | EGA
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