| Integrating transcriptomic and polygenic risk scores to enhance predictive accuracy for ischemic stroke subtypes |
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| Advancements and limitations in polygenic risk score methods for genomic prediction: a scoping review |
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| Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans |
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| Interpreting the actionable clinical role of rare variants associated with short QT syndrome |
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| Polymorphic pseudogenes in the human genome - a comprehensive assessment |
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| Germline copy number variants and endometrial cancer risk |
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| Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity |
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| The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources |
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| Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features |
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| Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases |
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| Methodologies underpinning polygenic risk scores estimation: a comprehensive overview |
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✓ |
✓ |
✓ |
European ancestry; non-European populations; diverse populations; ancestral backgrounds |
| Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases |
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| Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease |
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| Genome-wide study of gene-by-sex interactions identifies risks for cleft palate |
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| Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis |
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| Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients |
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| Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms |
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| A methodology for gene level omics-WAS integration identifies genes influencing traits associated with cardiovascular risks: the Long Life Family Study |
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| Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation |
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| VCAT: an integrated variant function annotation tools |
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| Structure-informed protein language models are robust predictors for variant effects |
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| GBF1 deficiency causes cataracts in human and mouse |
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| Assessing predictions on fitness effects of missense variants in HMBS in CAGI6 |
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| Genome-wide assessment of shared genetic landscape of idiopathic pulmonary fibrosis and its comorbidities |
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| T1R2/T1R3 polymorphism affects sweet and fat perception: Correlation between SNP and BMI in the context of obesity development |
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| Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification |
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| Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss |
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| Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders |
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| Long non-coding RNAs: recent insights, remaining challenges, and exciting new directions |
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| QAFI: a novel method for quantitative estimation of missense variant impact using protein-specific predictors and ensemble learning |
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| The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation |
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| Automatized detection of uniparental disomies in a large cohort |
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| The obesity-related mutation gene on nonalcoholic fatty liver disease |
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| Fine mapping of candidate effector genes for heart rate |
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✓ |
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individuals of European ancestry from UK Biobank |
| FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells |
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| R2ROC: an efficient method of comparing two or more correlated AUC from out-of-sample prediction using polygenic scores |
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| Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes |
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| Retrospective studies and quantitative proteomics reveal that abnormal expression of blood pressure, blood lipids, and coagulation related proteins is associated with hypospadias |
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| Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach |
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| lncRNA CDKN2B-AS1 regulates collagen expression |
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| Advances in long-read single-cell transcriptomics |
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| The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes |
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| Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies |
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| Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome |
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| The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis |
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| Chromatinopathies – from discovery to clinical diagnosis in the real world |
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| A novel network-based method identifies a cuproplasia-related pan-cancer gene signature to predict patient outcome |
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| VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19 |
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| Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci |
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| Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy |
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| Phenotypic and genetic effect of carotid intima-media thickness on the risk of stroke |
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| Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy |
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| Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting |
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| Variant effect predictors: a systematic review and practical guide |
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| Cross-ancestry genetic architecture and prediction for cholesterol traits |
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| Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data |
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| Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder |
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| An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases |
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| Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly |
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| The crucial prognostic signaling pathways of pancreatic ductal adenocarcinoma were identified by single-cell and bulk RNA sequencing data |
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| An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population |
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✓ |
✓ |
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European population; Europeans; Non-Finnish European (NFE) |
| Integrative regulation of hLMR1 by dietary and genetic factors in nonalcoholic fatty liver disease and hyperlipidemia |
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| The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction |
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| Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications |
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| STRAS:a snakemake pipeline for genome-wide short tandem repeats annotation and score |
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| Genome-wide analyses reveal the regulatory roles of DNA methylation-regulated alternative promoter transcripts in breast cancer |
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| A novel 193-plex MPS panel integrating STRs and SNPs highlights the application value of forensic genetics in individual identification and paternity testing |
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| Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency |
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| PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner |
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| STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation |
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| PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss |
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| Trisomy silencing by XIST: translational prospects and challenges |
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| Clinical and genetic architecture of a large cohort with auditory neuropathy |
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| Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects |
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✓ |
✓ |
Chinese; ethnically matched controls |
| Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies |
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| Functional categorization of gene regulatory variants that cause Mendelian conditions |
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| The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease |
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| Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37 |
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| Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference |
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| Identification of TACSTD2 as novel therapeutic targets for cisplatin-induced acute kidney injury by multi-omics data integration |
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| Mitochondrial genetic variation and risk of chronic kidney disease and acute kidney injury in UK Biobank participants |
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✓ |
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| Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder |
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✓ |
✓ |
Swedish cohort |
| Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants |
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✓ |
✓ |
Finnish; East Asian; diverse populations; ethnic groups; pan-ethnic |
| Screening copy number variations in 35 unsolved inherited retinal disease families |
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| The pivotal role of long non-coding RNAs as potential biomarkers and modulators of chemoresistance in ovarian cancer (OC) |
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| Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes |
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| Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism |
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| Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility |
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| Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges |
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| Genome-wide DNA methylation of lesional and peri-lesional skin in vitiligo: a comparative and integrated analysis of multi-omics in Chinese population |
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| Genome-wide association and Mendelian randomization analysis provide insights into the shared genetic architecture between high-dimensional electrocardiographic features and ischemic heart disease |
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| Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution |
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| Predicting the impact of rare variants on RNA splicing in CAGI6 |
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| Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities |
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| Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges |
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