| SPP1 is associated with adverse prognosis and predicts immunotherapy efficacy in penile cancer |
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| The Human Genome Organisation (HUGO) and a vision for Ecogenomics: the Ecological Genome Project |
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| What is the functional reach of wastewater surveillance for respiratory viruses, pathogenic viruses of concern, and bacterial antibiotic resistance genes of interest? |
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| Mitochondrial DNA copy number variation across three generations: a possible biomarker for assessing perinatal outcomes |
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| LINE-1 global DNA methylation, iron homeostasis genes, sex and age in sudden sensorineural hearing loss (SSNHL) |
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| Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families |
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✓ |
✓ |
Chinese; Chinese population |
| Triangulating nutrigenomics, metabolomics and microbiomics toward personalized nutrition and healthy living |
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| Whole mitogenome sequencing uncovers a relation between mitochondrial heteroplasmy and leprosy severity |
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| A case–control comparison of acute-phase peripheral blood gene expression in participants diagnosed with minor ischaemic stroke or stroke mimics |
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| Emerging trends in pharmacogenomics: from common variant associations toward comprehensive genomic profiling |
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| Dispersed DNA variants underlie hearing loss in South Florida’s minority population |
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✓ |
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✓ |
✓ |
Hispanic, Non-Hispanic, Black, Asian, African Americans/Blacks |
| Phenome-wide association study on miRNA-related sequence variants: the UK Biobank |
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| Targeted sequencing of high-density SNPs provides an enhanced tool for forensic applications and genetic landscape exploration in Chinese Korean ethnic group |
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| MmisAT and MmisP: an efficient and accurate suite of variant analysis toolkit for primary mitochondrial diseases |
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| The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023 |
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✓ |
✓ |
Brazilian population |
| Identification of genetic loci jointly influencing COVID-19 and coronary heart diseases |
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| Genetic evidence for the causal association between type 1 diabetes and the risk of polycystic ovary syndrome |
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✓ |
|
|
European ancestries |
| The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity |
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| The attitude and behaviors of the different spheres of the community of the United Arab Emirates toward the clinical utility and bioethics of secondary genetic findings: a cross-sectional study |
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✓ |
✓ |
Western bioethicists; Arabic countries; Arab regions; UAE population |
| Comprehensive analysis of alternative splicing across multiple transcriptomic cohorts reveals prognostic signatures in prostate cancer |
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| Multidimensional fragmentomic profiling of cell-free DNA released from patient-derived organoids |
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| The complex impact of cancer-related missense mutations on the stability and on the biophysical and biochemical properties of MAPK1 and MAPK3 somatic variants |
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| Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era |
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| FGFR1 variants contributed to families with tooth agenesis |
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✓ |
✓ |
Han Chinese |
| Epigenomic signature of major congenital heart defects in newborns with Down syndrome |
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| Decoding cell-type contributions to the cfRNA transcriptomic landscape of liver cancer |
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| Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants |
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| Mendelian randomization analysis reveals fresh fruit intake as a protective factor for urolithiasis |
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| Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis |
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✓ |
✓ |
Finnish |
| The causal relationship between COVID-19 and seventeen common digestive diseases: a two-sample, multivariable Mendelian randomization study |
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| ANXA1 is identified as a key gene associated with high risk and T cell infiltration in primary sclerosing cholangitis |
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| Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach |
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| Generation and characterization of a zebrafish knockout model of abcb4, a homolog of the human multidrug efflux transporter P-glycoprotein |
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| RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome |
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| Genetics in ophthalmology: molecular blueprints of retinoblastoma |
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| An AI-powered patient triage platform for future viral outbreaks using COVID-19 as a disease model |
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| A genome-wide cross-trait analysis identifies genomic correlation, pleiotropic loci, and causal relationship between sex hormone-binding globulin and rheumatoid arthritis |
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| Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes |
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| The RNA m6A modification might participate in microglial activation during hypoxic–ischemic brain damage in neonatal mice |
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| Determining the utility of diagnostic genomics: a conceptual framework |
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| Developing neural network diagnostic models and potential drugs based on novel identified immune-related biomarkers for celiac disease |
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| Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China |
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| Correction: Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer |
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| The application of long-read sequencing in clinical settings |
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| Total RNA sequencing reveals gene expression and microbial alterations shared by oral pre-malignant lesions and cancer |
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| Transcriptome and proteome analysis reveals the anti-cancer properties of Hypnea musciformis marine macroalga extract in liver and intestinal cancer cells |
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| Mitochondrial genome study in blood of maternally inherited ALS cases |
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| CVD-associated SNPs with regulatory potential reveal novel non-coding disease genes |
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| COVID-19 annual update: a narrative review |
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| Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer |
|
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|
✓ |
✓ |
Singapore patients; East Asians (gnomAD non-cancer East Asians) |
| Whole-genome sequencing and functional annotation of pathogenic Paraconiothyrium brasiliense causing human cellulitis |
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| Knowledge, attitudes, and perceptions of the multi-ethnic population of the United Arab Emirates on genomic medicine and genetic testing |
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✓ |
✓ |
multi-ethnic |
| The mutational landscape of a US Midwestern breast cancer cohort reveals subtype-specific cancer drivers and prognostic markers |
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| Pharmacovariome scanning using whole pharmacogene resequencing coupled with deep computational analysis and machine learning for clinical pharmacogenomics |
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| Characterizing the polygenic architecture of complex traits in populations of East Asian and European descent |
|
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|
✓ |
✓ |
✓ |
✓ |
European descent; East Asian |
| Alzheimer’s disease: using gene/protein network machine learning for molecule discovery in olive oil |
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| Phenotypic variability to medication management: an update on fragile X syndrome |
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| Monitoring SARS-CoV-2 variants in wastewater of Dhaka City, Bangladesh: approach to complement public health surveillance systems |
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| The impact of ABCB1, CYP3A4/5 and ABCG2 gene polymorphisms on rivaroxaban trough concentrations and bleeding events in patients with non-valvular atrial fibrillation |
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| Smoking-related dysregulation of plasma circulating microRNAs: the Rotterdam study |
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| New approach methodologies to address population variability and susceptibility |
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| Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes |
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| Evaluation of a genetic risk score computed using human chromosomal-scale length variation to predict breast cancer |
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| The impact of ACE2 polymorphisms (rs1978124, rs2285666, and rs2074192) and ACE1 rs1799752 in the mortality rate of COVID-19 in different SARS-CoV-2 variants |
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| Clinical prognosis and related molecular features of hepatitis B-associated adolescent and young adult hepatocellular carcinoma |
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| Systems genetics identifies miRNA-mediated regulation of host response in COVID-19 |
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| Analyzing the role of ACE2, AR, MX1 and TMPRSS2 genetic markers for COVID-19 severity |
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| Economic evaluation of pharmacogenomic-guided antiplatelet treatment in Spanish patients suffering from acute coronary syndrome participating in the U-PGx PREPARE study |
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|
✓ |
✓ |
Spanish origin; European countries including Spain |
| Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network |
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| Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases |
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| Genomic approaches to identify and investigate genes associated with atrial fibrillation and heart failure susceptibility |
|
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|
|
✓ |
✓ |
✓ |
European, Asian, and American ancestries; multi-ethnic studies; ethnic minorities; Asian and American ancestries |
| Modeling the longitudinal changes of ancestry diversity in the Million Veteran Program |
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✓ |
|
|
European ancestry; HARE-assigned Europeans |
| A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish |
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| Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy |
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| Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families |
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| Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene |
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| Genetic basis of STEM occupational choice and regional economic performance: a UK biobank genome-wide association study |
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| Twist exome capture allows for lower average sequence coverage in clinical exome sequencing |
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| The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China |
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| Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population |
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| Genome-wide analysis toward the epigenetic aetiology of myelodysplastic syndrome disease progression and pharmacoepigenomic basis of hypomethylating agents drug treatment response |
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| The X-factor in ART: does the use of assisted reproductive technologies influence DNA methylation on the X chromosome? |
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| Association between interleukin-10 gene polymorphisms (rs1800871, rs1800872, and rs1800896) and severity of infection in different SARS-CoV-2 variants |
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| Allelic phenotype prediction of phenylketonuria based on the machine learning method |
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| Integrative analysis of a novel super-enhancer-associated lncRNA prognostic signature and identifying LINC00945 in aggravating glioma progression |
|
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|
|
✓ |
✓ |
Chinese |
| In silico prioritisation of microRNA-associated common variants in multiple sclerosis |
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| Correction: Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong–Mein-related lineage and biological adaptation history in Southwest China |
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|
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| Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis |
|
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|
|
✓ |
✓ |
Chinese population |
| Association of APP gene polymorphisms and promoter methylation with essential hypertension in Guizhou: a case–control study |
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|
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| Localized assembly for long reads enables genome-wide analysis of repetitive regions at single-base resolution in human genomes |
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| Comprehensive analysis of cuproptosis-related long noncoding RNA for predicting prognostic and diagnostic value and immune landscape in colorectal adenocarcinoma |
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| Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy |
|
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|
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| Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels |
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|
|
✓ |
✓ |
Ashkenazi Jewish; Muslim Arabs; Israeli; pan-ethnic; ancestries; ethnically based |
| Multiple founding paternal lineages inferred from the newly-developed 639-plex Y-SNP panel suggested the complex admixture and migration history of Chinese people |
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| Pharmacy students’ attitudes and intentions of pursuing postgraduate studies and training in pharmacogenomics and personalised medicine |
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| Genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangzhou, China |
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|
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| Relationships between circulating metabolites and facial skin aging: a Mendelian randomization study |
|
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|
|
| A crowdsourcing database for the copy-number variation of the Spanish population |
|
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|
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|
|
✓ |
✓ |
Spanish ancestry; Spanish population; Spanish individuals; local population |
| Controlling the confounding effect of metabolic gene expression to identify actual metabolite targets in microsatellite instability cancers |
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|
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| Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance |
|
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|
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| Computational network analysis of host genetic risk variants of severe COVID-19 |
|
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|
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| Global distribution of functionally important CYP2C9 alleles and their inferred metabolic consequences |
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| Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy |
|
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|
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| Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea |
|
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|
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| Regulon active landscape reveals cell development and functional state changes of human primary osteoblasts in vivo |
|
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|
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| Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene |
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|
|
| Data-driven identification and classification of nonlinear aging patterns reveals the landscape of associations between DNA methylation and aging |
|
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|
|
| The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution |
|
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| Genetic association of PRKCD and CARD9 polymorphisms with Vogt–Koyanagi–Harada disease in the Chinese Han population |
|
|
|
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|
|
✓ |
✓ |
Chinese Han population |
| SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation |
|
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|
|
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|
|
| Integrated analysis of RNA methylation regulators crosstalk and immune infiltration for predictive and personalized therapy of diabetic nephropathy |
|
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| Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases |
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| Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex |
|
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|
|
| Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong–Mein-related lineage and biological adaptation history in Southwest China |
|
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|
|
|
|
|
| Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations |
|
|
|
|
|
|
✓ |
✓ |
Asian; Korean; ethnically distinct; ethnic groups; Korean populations |
| Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel |
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