Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants
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DOI: 10.1007/s00439-017-1815-6
Abstract: Genome-wide association study (GWAS)-identified variants are enriched for functional elements. However, we have limited knowledge of how functional enrichment may differ by disease/trait and tissue type. We tested a broad set of eight functional elements… read more here.
Keywords: trait; functional elements; disease trait; eight functional ... See more keywords
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait
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DOI: 10.1038/s41439-024-00278-9
Abstract: A 3.5-Mb microdeletion in Xq22 was identified in a female patient with early-onset neurological disease trait (EONDT). The patient exhibited developmental delay but no hypomyelination despite PLP1 involvement in the deletion. However, the clinical features… read more here.
Keywords: patient early; onset neurological; neurological disease; early onset ... See more keywords
Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.919237
Abstract: Actin-related protein 2/3 complex subunit 1B (ARPC1B) deficiency is a recently described inborn error of immunity (IEI) presenting with combined immunodeficiency and characterized by recurrent infections and thrombocytopenia. Manifestations of immune dysregulation, including colitis, vasculitis,… read more here.
Keywords: radiosensitivity; disease trait; arpc1b deficiency;