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Article
Open AccessGenome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe
Stevens-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are rare but extremely severe cutaneous adverse drug reactions in which drug-specific associations with HLA-B alleles were described.
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Article
Open AccessAutism risk assessment in siblings of affected children using sex-specific genetic scores
The inheritance pattern in most cases of autism is complex. The risk of autism is increased in siblings of children with autism and previous studies have indicated that the level of risk can be further identif...
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Article
Open AccessExpanding ACMG variant classification guidelines into a general framework
The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been wide...
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Article
Open AccessExome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease
Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do n...
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Article
Open AccessCombining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. In this study, we aim ...