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Fine mapping of candidate effector genes for heart rate
Fine mapping of candidate effector genes for heart rate
An elevated resting heart rate (RHR) is associated with increased cardiovascular mortality. Genome-wide association studie...
FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells
FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells
Unilateral moyamoya disease (MMD) represents a distinct subtype characterised by occlusive changes in the circle of Willis...
The obesity-related mutation gene on nonalcoholic fatty liver disease
The obesity-related mutation gene on nonalcoholic fatty liver disease
The prevalence of overweight and obesity is increasing, leading to metabolic-associated fatty liver disease (MAFLD) charac...
Automatized detection of uniparental disomies in a large cohort
Automatized detection of uniparental disomies in a large cohort
Uniparental disomy (UPD) is the inheritance of both homologues of a chromosome from only one parent. The detection of UPDs...
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
ARID1B is the most frequently mutated gene in Coffin-Siris syndrome (CSS). To date, the vast majority of causative variant...
R2ROC: an efficient method of comparing two or more correlated AUC from out-of-sample prediction using polygenic scores
R2ROC: an efficient method of comparing two or more correlated AUC from out-of-sample prediction using polygenic scores
Polygenic risk scores (PRSs) enable early prediction of disease risk. Evaluating PRS performance for binary traits commonl...
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes
NF1 microdeletion syndrome, accounting for 5–11% of NF1 patients, is caused by a deletion in the NF1 region and it i...
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach
Endometriosis is characterized by the ectopic proliferation of endometrial cells, posing considerable diagnostic and thera...
Retrospective studies and quantitative proteomics reveal that abnormal expression of blood pressure, blood lipids, and coagulation related proteins is associated with hypospadias
Retrospective studies and quantitative proteomics reveal that abnormal expression of blood pressure, blood lipids, and coagulation related proteins is associated with hypospadias
Hypospadias refers to the abnormal position of the male urethral orifice, which not only leads to urination disorder but a...
lncRNA CDKN2B-AS1 regulates collagen expression
lncRNA CDKN2B-AS1 regulates collagen expression
The long noncoding RNA CDKN2B-AS1 harbors a major coronary artery disease risk haplotype, which is also associated with pr...
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obes...
Advances in long-read single-cell transcriptomics
Advances in long-read single-cell transcriptomics
Long-read single-cell transcriptomics (scRNA-Seq) is revolutionizing the way we profile heterogeneity in disease. Traditio...
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
Histone deacetylases (HDACs) are enzymes pivotal for histone modification (i.e. acetylation marks removal), chromatin acce...
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome
Germline gain of function variants in the oncogene ABL1 cause congenital heart defects and skeletal malformations (CHDSKM)...
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
TMPRSS3-related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the sma...
A novel network-based method identifies a cuproplasia-related pan-cancer gene signature to predict patient outcome
A novel network-based method identifies a cuproplasia-related pan-cancer gene signature to predict patient outcome
Copper is a vital micronutrient involved in many biological processes and is an essential component of tumour cell growth ...
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19
With the increasing importance of genomic data in understanding genetic diseases, there is an essential need for efficient...
Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci
Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci
Systemic Lupus Erythematosus (SLE) is an autoimmune disease with heterogeneous manifestations, including neurological and ...
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy
Generalized lipodystrophy is a feature of various hereditary disorders, often leading to a progeroid appearance. In the pr...
Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting
Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting
Genetic diseases are mostly implicated with genetic variants, including missense, synonymous, non-sense, and copy number v...
Variant effect predictors: a systematic review and practical guide
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 i...
Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy
Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy
CLCN4-related disorder is a rare X-linked neurodevelopmental condition with a pathogenic mechanism yet to be elucidated. C...
Phenotypic and genetic effect of carotid intima-media thickness on the risk of stroke
Phenotypic and genetic effect of carotid intima-media thickness on the risk of stroke
While carotid intima-media thickness (cIMT) as a noninvasive surrogate measure of atherosclerosis is widely considered a r...
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data
Most rare disease patients (75–50%) undergoing genomic sequencing remain unsolved, often due to lack of information ...
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
Neurons form the basic anatomical and functional structure of the nervous system, and defects in neuronal differentiation ...
The crucial prognostic signaling pathways of pancreatic ductal adenocarcinoma were identified by single-cell and bulk RNA sequencing data
The crucial prognostic signaling pathways of pancreatic ductal adenocarcinoma were identified by single-cell and bulk RNA sequencing data
Pancreatic ductal adenocarcinoma (PDAC) is a malignant tumor with poor prognosis and high mortality. Although a large numb...
An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population
An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population
Meniere disease is a complex inner ear disorder with significant familial aggregation. A differential prevalence of famili...
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases
Identifying disease-causing variants in Rare Disease patients’ genome is a challenging problem. To accomplish this t...
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder
General transcription factor IIIC subunit 5 (GTF3C5) encodes transcription factor IIIC63 (TFIIIC63). It binds to DNA to re...
Genome-wide analyses reveal the regulatory roles of DNA methylation-regulated alternative promoter transcripts in breast cancer
Genome-wide analyses reveal the regulatory roles of DNA methylation-regulated alternative promoter transcripts in breast cancer
A certain proportion of genes are regulated by multiple, distinct promoters, revealing a dynamic landscape of the cancer t...
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