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Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery
BackgroundOne of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in...
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Functional characterization of Alzheimer’s disease genetic variants in microglia
Candidate cis -regulatory elements (cCREs) in microglia demonstrate the most substantial enrichment for Alzheimer’s disease (AD) heritability compared...
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Multiparametric and accurate functional analysis of genetic sequence variants using CRISPR-Select
Determining the functional role of thousands of genetic sequence variants (mutations) associated with genetic diseases is a major challenge. Here we...
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Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss
BackgroundThe American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines recommend using variant...
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Functional Characterization of a Novel SLC4A4 Variant and Uniparental Isodisomy in Proximal Renal Tubular Acidosis Patient
SLC4A4 variants are the etiologies of inherited proximal renal tubular acidosis (pRTA), which results in metabolic acidosis, hypokalemia, glaucoma,...
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Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1
BackgroundHereditary tyrosinemia type 1 (HT1; OMIM# 276700) is a genetic metabolism disorder caused by disease-causing variants in the...
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Functional genetic variants of GEN1 predict overall survival of Chinese epithelial ovarian cancer patients
BackgroundInherited variations in DNA double-strand break (DSB) repair pathway are known to influence ovarian cancer occurrence, progression and...
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Recent advances in CRISPR-based functional genomics for the study of disease-associated genetic variants
Advances in sequencing technology have greatly increased our ability to gather genomic data, yet understanding the impact of genetic mutations,...
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Variant effect predictors: a systematic review and practical guide
Large-scale association analyses using whole-genome sequence data have become feasible, but understanding the functional impacts of these...
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A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies
We described the diagnosis and treatment of a patient with autoinflammatory disease, named “Deficiency in ELF4 , X-linked (DEX)”. A novel ELF4 variant...
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APF2: an improved ensemble method for pharmacogenomic variant effect prediction
Lack of efficacy or adverse drug response are common phenomena in pharmacological therapy causing considerable morbidity and mortality. It is...
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The Human GP130 Cytokine Receptor and Its Expression—an Atlas and Functional Taxonomy of Genetic Variants
Genetic variants in IL6ST encoding the shared cytokine receptor for the IL-6 cytokine family GP130 have been associated with a diverse number of...
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Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant
Congenital titinopathies are an emerging group of a potentially severe form of congenital myopathies caused by biallelic mutations in titin, encoding...
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Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent
TP53 pathogenic variants cause Li-Fraumeni syndrome (LFS), with some variants causing an attenuated phenotype. Herein, we describe the clinical...
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SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier?
We describe a novel superoxide dismutase ( SOD1 ) mutation-associated clinical phenotype of cerebellar ataxia and motor neuron disease with a variant...
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Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis
We interrogate the joint genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of...
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Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss
DFNA68 is a rare subtype of autosomal dominant nonsyndromic hearing impairment caused by heterozygous alterations in the HOMER2 gene. To date, only 5...
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A Common Functional Variant at the Enhancer of the Rheumatoid Arthritis Risk Gene ORMDL3 Regulates its Expression Through Allele-Specific JunD Binding
Genome-wide association studies (GWASs) have identified over 100 loci associated with rheumatoid arthritis (RA); however, the functionally affected...
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Genetic Epilepsy
The field of genetic epilepsy has witnessed remarkable advancements leading to improved diagnosis, prognosis, and management. This chapter provides a...
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Novel Genetic Variant of 30-bp Deletion: A Polymorphism of Latent Membrane Protein 1 from Vietnamese Epstein Barr Virus-Associated Nasopharyngeal Carcinoma Biopsies
Nasopharyngeal carcinoma (NPC) is the most common cancer of in the areas of head and neck cancer, which gravitates toward Asia. NPC is tightly...
