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Genetic modifiers of rare variants in monogenic developmental disorder loci
Rare damaging variants in a large number of genes are known to cause monogenic developmental disorders (DDs) and have also been shown to cause milder...
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Analysis of rare Parkinson’s disease variants in millions of people
Although many rare variants have been reportedly associated with Parkinson’s disease (PD), many have not been replicated or have failed to replicate....
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Predicting the impact of rare variants on RNA splicing in CAGI6
Variants which disrupt splicing are a frequent cause of rare disease that have been under-ascertained clinically. Accurate and efficient methods to...
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Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association...
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Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes
As one of the most common structural birth defects, orofacial clefts (OFCs) have been studied for decades, and recent studies have demonstrated that...
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GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
Copy number variants (CNVs) are major contributors to genetic diversity and disease. While standardized methods, such as the genome analysis toolkit...
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Association of rare PPARGC1A variants with Parkinson’s disease risk
BackgroundRecent researches on Parkinson’s disease (PD) pathogenesis discovered the correlation between PD and peroxisome proliferator-activated...
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Rare DNAJC7 Variants May Play a Minor Role in Chinese Patients with ALS
DnaJ heat shock protein family member C7 gene ( DNAJC7 ) has been identified as a genetic risk factor for amyotrophic lateral sclerosis (ALS). In our...
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Rare coding variants in CHRNB2 reduce the likelihood of smoking
Human genetic studies of smoking behavior have been thus far largely limited to common variants. Studying rare coding variants has the potential to...
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Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants...
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Integrating rare genetic variants into DPYD pharmacogenetic testing may help preventing fluoropyrimidine-induced toxicity
Variability in genes involved in drug pharmacokinetics or drug response can be responsible for suboptimal treatment efficacy or predispose to adverse...
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Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease
Coronary artery disease (CAD) exists on a spectrum of disease represented by a combination of risk factors and pathogenic processes. An in silico...
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Exome sequence analysis of rare frequency variants in Late-Onset Alzheimer Disease
Alzheimer disease (AD) is a leading cause of dementia in elderly patients who continue to live between 3 and 11 years of diagnosis. A steep rise in...
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Cauchy combination methods for the detection of gene–environment interactions for rare variants related to quantitative phenotypes
The characterization of gene–environment interactions (GEIs) can provide detailed insights into the biological mechanisms underlying complex...
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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Nuclear receptor subfamily 2 group F member 2 ( NR2F2 or COUP-TF2 ) encodes a transcription factor which is expressed at high levels during mammalian...
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Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk
A previous study of 200,000 exome-sequenced UK Biobank participants investigating the association between rare coding variants and hyperlipidaemia...
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Presence of Rare Variants is Associated with Poorer Survival in Chinese Patients with Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with phenotypic and genetic heterogeneity. Recent studies have suggested an...
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Generation of Rare Human NMDA Receptor Variants in Mice
The analysis of rare NMDAR gene variants in mice, coupled with a fundamental understanding of NMDAR function, plays a crucial role in achieving...
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Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects
Neural tube defects (NTDs) are severe malformations of the central nervous system that arise from failure of neural tube closure. HECTD1 is an E3...
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Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease
It is unclear how rare RNF213 variants, other than the p.R4810K founder variant, affect the clinical phenotype or the function of RNF213 in moyamoya...
