Etiqueta: AmJHumGenet

Human genetic variation influences susceptibility to infectious disease. Antibodies, stable biological markers of the response to infection, can be measured and leveraged to understand disease exposure, chronic infection state, and risk. Measured antib…

Methods aimed at deconvolving cell-type-specific estimates of bulk gene expression offer a cost-effective way to investigate cell-type-specific eQTLs. Our study suggests that such computational approaches to a large sample with blood-based bulk RNA-seq…

Macular dystrophies are a group of inherited eye diseases that affect the retina and significantly impair central visual functions. Here we report mutations in SAMD7 as a cause for autosomal-recessive macular dystrophy. This finding places SAMD7 as a g…

CAMK2 disorder is a relatively new disorder where three of the four CAMK2s (CAMK2A, B, and G) are shown to cause neurodevelopmental disorders. In this paper we describe a cohort of eight individuals with neurodevelopmental disorders and cardiac abnorma…

Tissue-specific gene expression is a major challenge in transcriptome-based rare-disease diagnostics. CRISPR activation is a recently developed tool to activate the expression of genes of interest in vitro. Here, we apply CRISPR activation to clarify t…

Using haplotype sharing trees and majority-based ancestral haplotypes, we demonstrate that the C9orf72 hexanucleotide repeat expansion and alleles with ≥18–20 repeats share large haplotype blocks, indicating very recent shared ancestry. This was in sha…

Genetic variants in noncoding regions such as 3′ UTRs are associated with disease and phenotypes, but their functional interpretation remains challenging. We have identified specific regulatory elements in 3′ UTRs that are enriched for variants that im…

Infectious agents contribute significantly to the global burden of diseases, through both acute infection and their chronic sequelae. We identified an insertion-deletion variant thought to affect NFKB1 expression as a causal variant—central to serologi…

This study uses functional genomics approaches to assess candidate cis-regulatory elements (cCREs) for MAPT in neurons. The study suggests that impactful rare non-coding variants in MAPT cCREs (hypothesized to result in lower tau expression) may be pro…

Cancer is known to arise after a cell experiences multiple driver mutations that allow it to grow uncontrollably and ultimately metastasize to distant anatomic sites. In this paper, we introduce a computational approach for identifying driver mutations…