Previous studies have found a group of risk genes, but they can explain only a small proportion of the IPAH cases. Taking the most predominant gene BMPR2 as an example, its variants only account for 14.5 percent of Chinese patients with the disease. "The genetic basis of IPAH still needs...
Most of the rare variants with large clinical effects are identified in syndromic ASD forms with intellectual disability (ID) and other comorbidities, and are associated with Mendelian forms of ASD in 10–30% of patients [4, 17]. There is a large overlap between ASD and ID genes, but some...
are heterozygous and did not fit a bimodal distribution but were supported by GATK HaplotypeCaller, and those that appeared to be homozygous and had a read depth of at least 10x. This method of partitioning variants is also used for indels. ...
5. Such findings are not observed in MO6,7, suggesting divergent pathogenesis of these migraine subtypes. A rare and clinically distinct subtype of MA is familial hemiplegic migraine (FHM)2. Three genes have been linked to FHM—one encoding a membrane protein involved in maintaining gradients of...
associated with body mass index (BMI) in adults8. These variants are mostly noncoding and are enriched near genes expressed in the brain9. Individually, the effect of each variant is small, and cumulatively, the ~1,000 common variants identified to date explain only ~6% of the population ...
The variants of inflammatory and immune response genes are of special interest since advancing ages is accompanied by a decline in several immune functions—a phenomenon called immunosenescence. Paradoxically, ageing is also characterised by chronic low-grade inflammation termed “inflammaging”, which ...
the gRNA sequences within the cells are meticulously analyzed to identify genes that demonstrate growth advantages or disadvantages under the specific selection conditions. This detailed analysis enables the identification and characterization of genes that play a role in cellular responses and adaptations ...
Presently, an autistic subphenotype of schizophrenia is being defined where an unfortunate accumulation of normal genotypes, so-called pro-autistic variants of synaptic genes, explains part of the phenotypical variance. Deep phenotyping and comprehensive clinical data sets, however, are expensive and it...
we first quantified the effect of inferred gene expression on critical illness in three relevant tissue/cell types. Many of the genes that we have found to be implicated in critical COVID-19 (refs.1,2) are highly expressed in the monocyte–macrophage system, which has poor coverage in existi...
Box plot, median expression levels of genes with stage-specific eQTL at each developmental stage. Genes are grouped by eQTL stage specificity. Genes do not appear more highly expressed at the stage at which the stage-specific eQTL was called compared to other stages. c, Gene ontology enrichment...