-
Nanopore sequencing enables allelic phasing of FLG loss-of-function variants, intragenic copy number variation and methylation status in atopic dermatitis and ichthyosis vulgaris
Study
EGAS50000000166
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CTSP: Clinical Trial Sequencing Project
Study
phs001175
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NINDS Family-Based Whole-Genome Sequencing to Find Modifiers of Age of Onset in Huntington's Disease
Study
phs001071
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MAITS in HCC
Study
phs003279
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International Consortium on the Genetics of Systemic Lupus Erythematosus (SLEGEN)
Study
phs000216
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Whole Genome Sequencing Analysis in a Family of Discordant Twins With Non-Syndromic Microtia and Hemifacial Microsomia: Identification of Novel Candidate Genes and Variants
Study
phs003216
-
Reference Standards for Mosaic Variant Detection
Study
phs003399
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Single cell transcriptomics in expanded Tregs of APS-1 patients
Study
EGAS50000000181
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Longitudinal Multi-Omic Immune Resource Reveals Dynamic Responses in Healthy Human Aging
Study
phs003841
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CRISPR screening in human trophoblast stem cells reveals both shared and distinct aspects of human and mouse placental development
Study
JGAS000659