| Two recurrent pathogenic/likely pathogenic variants in PALB2 account for half of PALB2 positive families in Slovenia |
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| Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden |
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| An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy |
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| Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants |
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| The associations of candidate gene polymorphisms with aspirin resistance in patients with ischemic disease: a meta-analysis |
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| Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease |
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| Integration of single-cell sequencing and drug sensitivity profiling reveals an 11-gene prognostic model for liver cancer |
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| SCAN: a nanopore-based, cost effective decision-supporting tool for mass screening of aneuploidies |
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| Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism |
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| Advancing understanding of human variability through toxicokinetic modeling, in vitro-in vivo extrapolation, and new approach methodologies |
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| Ralationship between polymorphisms and diplotypes of HLA-G 3’UTR and fetuses with abnormal chromosomes or unexplained pregnancy loss (UPL) |
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| Global transcriptome modulation by xenobiotics: the role of alternative splicing in adaptive responses to chemical exposures |
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| Analysis of public perceptions on the use of artificial intelligence in genomic medicine |
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| Methyltransferase-like 3 represents a prospective target for the diagnosis and treatment of kidney diseases |
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| Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates |
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| Identification and characterization of novel ferroptosis-related genes in acute myocardial infarction |
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| Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene |
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| Development of oxidative stress- and ferroptosis-related prognostic signature in gastric cancer and identification of CDH19 as a novel biomarker |
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| Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data |
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| Drosophila Toxicogenomics: genetic variation and sexual dimorphism in susceptibility to 4-Methylimidazole |
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| Mapping the evolving trend of research on leukocyte telomere length: a text-mining study |
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| Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms |
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| Computational approaches to investigate the relationship between periodontitis and cardiovascular diseases for precision medicine |
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| Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype |
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| Fast and accurate DNASeq variant calling workflow composed of LUSH toolkit |
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| Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals |
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| Leveraging large-scale datasets and single cell omics data to develop a polygenic score for cisplatin-induced ototoxicity |
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| Implementing differentially pigmented skin models for predicting drug response variability across human ancestries |
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✓ |
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human ancestries |
| Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy |
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| Frequency of pharmacogenomic variants affecting safety and efficacy of immunomodulators and biologics in a South Asian population from Sri Lanka |
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✓ |
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South Asian population |
| Forward–reverse mutation cycles in cancer cell lines under chemical treatments |
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| Genome-wide association analysis of treatment resistant schizophrenia for variant discovery and polygenic assessment |
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| The regulatory landscape of interacting RNA and protein pools in cellular homeostasis and cancer |
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| Study of adiponectin gene (rs1501299) polymorphism and serum adiponectin level in patients with primary knee osteoarthritis |
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| Integrated multiomics revealed adenosine signaling predict immunotherapy response and regulate tumor ecosystem of melanoma |
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| The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping |
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| Genetic history and biological adaptive landscape of the Tujia people inferred from shared haplotypes and alleles |
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| Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death |
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| Reply to correspondence by Deora et al. in Human Genomics 18, article no.: 52 (2024): critical insights on “Association of the C allele of rs479200 in the EGLN1 gene with COVID‑19 severity in Indian p |
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| Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility |
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| AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes |
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| The effect of family structure on the still-missing heritability and genomic prediction accuracy of type 2 diabetes |
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| Multi-regional genomic and transcriptomic characterization of a melanoma-associated oral cavity cancer provide evidence for CASP8 alteration-mediated field cancerization |
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| The T-cell repertoire of Spanish patients with COVID-19 as a strategy to link T-cell characteristics to the severity of the disease |
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| Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype |
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| Polygenic risk score portability for common diseases across genetically diverse populations |
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| Characterizing PFAS hazards and risks: a human population-based in vitro cardiotoxicity assessment strategy |
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| Biological and clinical relevance of correlated expression levels of coding and long noncoding RNAs in HPV16 positive cervical cancers |
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| Rapid discrimination between deleterious and benign missense mutations in the CAGI 6 experiment |
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| Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors |
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| Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023 |
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| Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures |
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| Public perceptions of international genetic information sharing for biomedical research in China: a case study of the social media debate on the article “A Pangenome Reference of 36 Chinese Population |
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| Genome-wide association study and meta-analysis of phytosterols identifies a novel locus for serum levels of campesterol |
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| Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China |
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| Genetic distance and ancestry proportion modify the association between maternal genetic risk score of type 2 diabetes and fetal growth |
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|
✓ |
✓ |
✓ |
European ancestry; African, Amerindigenous, East Asian, multi-ancestral, African ancestries, East Asian GAP, genetic an |
| Targeted panel sequencing of pharmacogenes and oncodrivers in colorectal cancer patients reveals genes with prognostic significance |
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| A qualitative approach to assess the opinion of physicians about the challenges and prospects of pharmacogenomic testing implementation in clinical practice in Greece |
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| Identification of novel immune-related signatures for keloid diagnosis and treatment: insights from integrated bulk RNA-seq and scRNA-seq analysis |
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| Post-implantation analysis of genomic variations in the progeny from developing fetus to birth |
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| Pharmacogenetics in Italy: current landscape and future prospects |
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| An investigation of the molecular characterization of the tripartite motif (TRIM) family and primary validation of TRIM31 in gastric cancer |
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| Association of lipid-lowering drugs with risk of sarcopenia: a drug target mendelian randomization study and meta-analysis |
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| The cuproptosis-related signature predicts the prognosis and immune microenvironments of primary diffuse gliomas: a comprehensive analysis |
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| A novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese family |
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| Unveiling the molecular landscape of cognitive aging: insights from polygenic risk scores, DNA methylation, and gene expression |
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| EU surveys insights: analytical tools, future directions, and the essential requirement for reference materials in wastewater monitoring of SARS-CoV-2, antimicrobial resistance and beyond |
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| Polygenic subtype identified in ACCORD trial displays a favorable type 2 diabetes phenotype in the UKBiobank population |
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| Elucidating the role of liver enzymes as markers and regulators in ovarian cancer: a synergistic approach using Mendelian randomization, single-cell analysis, and clinical evidence |
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| Bayesian-frequentist hybrid inference framework for single cell RNA-seq analyses |
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| Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients |
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| Application of mendelian randomization in ocular diseases: a review |
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| Growth characteristics of HCT116 xenografts lacking asparagine synthetase vary according to sex |
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| Comprehensive bioinformatics analysis of human cytomegalovirus pathway genes in pan-cancer |
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| Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p |
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| Development of novel lysosome-related signatures and their potential target drugs based on bulk RNA-seq and scRNA-seq for diabetic foot ulcers |
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| Shared genetic effect of kidney function on bipolar and major depressive disorders: a large-scale genome-wide cross-trait analysis |
|
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✓ |
|
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Summary-level data of European ancestry were extracted from UK Biobank, Chronic Kidney Disease Genet |
| Trace amine associated receptor 1: predicted effects of single nucleotide variants on structure-function in geographically diverse populations |
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| Systematic analysis of IGF2BP family members in non-small-cell lung cancer |
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| Genetic analysis of 106 sporadic cases with hearing loss in the UAE population |
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| Sperm epigenetics and male infertility: unraveling the molecular puzzle |
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| Deep learning-based pathway-centric approach to characterize recurrent hepatocellular carcinoma after liver transplantation |
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| Mendelian randomization evidence based on European ancestry for the causal effects of leukocyte telomere length on prostate cancer |
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✓ |
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European ancestry |
| Assessment of nucleic acid extraction protocols for antibiotic resistance genes (ARGs) quantification in aircraft wastewater |
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| Pan-cancer analysis of CDKN2A alterations identifies a subset of gastric cancer with a cold tumor immune microenvironment |
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| Evolutionary and functional analyses of LRP5 in archaic and extant modern humans |
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| Critical insights on “Association of the C allele of rs479200 in the EGLN1 gene with COVID‑19 severity in Indian population: a novel finding” |
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| An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease |
|
✓ |
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| Polygenic risk score predicting susceptibility and outcome of benign prostatic hyperplasia in the Han Chinese |
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✓ |
✓ |
Han Chinese |
| A genome-wide association study identifies candidate genes for sleep disturbances in depressed individuals |
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| Simultaneous detection of influenza A, B and respiratory syncytial virus in wastewater samples by one-step multiplex RT-ddPCR assay |
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| Meta-analysis of genomic variants in power and endurance sports to decode the impact of genomics on athletic performance and success |
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| Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India |
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| Australian public perspectives on genomic newborn screening: which conditions should be included? |
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| Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project |
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| Mendelian randomization and colocalization analysis reveal novel drug targets for myasthenia gravis |
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| Prioritization of therapeutic targets for cancers using integrative multi-omics analysis |
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| GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract |
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| Meta-analysis of the global distribution of clinically relevant CYP2C8 alleles and their inferred functional consequences |
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|
✓ |
✓ |
West African ancestry; East Asian; South and West Asian; African; European; ethnic groups |
| Epidemiologic association and shared genetic architecture between cataract and hearing difficulties among middle-aged and older adults |
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| FiTMuSiC: leveraging structural and (co)evolutionary data for protein fitness prediction |
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| Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients |
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✓ |
✓ |
Southeast Asian ethnicity |
| The causal associations of circulating lipids with Barrett’s Esophagus and Esophageal Cancer: a bi-directional, two sample mendelian randomization analysis |
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| The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population |
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| Profiling the role of m6A effectors in the regulation of pluripotent reprogramming |
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| Prioritizing susceptibility genes for the prognosis of male-pattern baldness with transcriptome-wide association study |
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| Paternal aging impacts expression and epigenetic markers as early as the first embryonic tissue lineage differentiation |
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| Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population |
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| Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins |
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|
✓ |
✓ |
✓ |
European-descent individuals (EUR); African descent (AFR); Central-South Asian descent (CSA); East Asians (EAS); genetically-inferred an |
| Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency |
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| Hemorrhoidal disease and its genetic association with depression, bipolar disorder, anxiety disorders, and schizophrenia: a bidirectional mendelian randomization study |
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| Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders |
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| A genome-wide association study of neutrophil count in individuals associated to an African continental ancestry group facilitates studies of malaria pathogenesis |
|
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|
✓ |
✓ |
✓ |
non-European population; non-European; African ancestry; individuals of African ancestry; African continental ancestry group; Benign ethnic |
| Statistical methods for assessing the effects of de novo variants on birth defects |
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| Cellular and clinical impact of protein phosphatase enzyme epigenetic silencing in multiple cancer tissues |
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| Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome |
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| Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy |
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| Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants |
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| Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease |
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| Altered expression of serum lncRNA CASC2 and miRNA-21-5p in COVID-19 patients |
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|
|
| Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses |
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|
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| Gene expression analysis reveals diabetes-related gene signatures |
|
|
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|
|
| Correction: Association of the C allele of rs479200 in the EGLN1 gene with COVID-19 severity in Indian population: a novel finding |
|
|
|
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|
|
✓ |
|
Indian population |
| Protein–protein interaction network-based integration of GWAS and functional data for blood pressure regulation analysis |
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|
| A broad wastewater screening and clinical data surveillance for virus-related diseases in the metropolitan Detroit area in Michigan |
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| Causal associations of COVID‐19 on neurosurgical diseases risk: a Mendelian randomization study |
|
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✓ |
|
|
within European populations |
| Solanidine is a sensitive and specific dietary biomarker for CYP2D6 activity |
|
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|
|
✓ |
✓ |
Finnish volunteers |
| Wastewater-based epidemiology applied at the building-level reveals distinct virome profiles based on the age of the contributing individuals |
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| Polymorphisms in transcription factor binding sites and enhancer regions and pancreatic ductal adenocarcinoma risk |
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|
✓ |
✓ |
East Asian |
| The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases |
|
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|
|
| Investigation of community pharmacists’ knowledge and attitudes of pharmacogenomics testing: implication for improved pharmacogenomic testing practice |
|
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|
|
| Association of the C allele of rs479200 in the EGLN1 gene with COVID-19 severity in Indian population: a novel finding |
|
|
|
|
|
|
✓ |
✓ |
Indian population |
| Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes |
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|
| A genomics perspective of personalized prevention and management of obesity |
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| Congenital septal defects in Karachi, Pakistan: an update of mutational screening by high-resolution melting (HRM) analysis of MTHFR C677T |
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| A novel upregulated hsa_circ_0032746 regulates the oncogenesis of esophageal squamous cell carcinoma by regulating miR-4270/MCM3 axis |
|
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|
|
|
✓ |
✓ |
Asian countries, including China |
| Celebrating 20 years of human genomics: a journey of discovery |
|
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|
|
| The diversity and clinical implications of genetic variants influencing clopidogrel bioactivation and response in the Emirati population |
|
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|
✓ |
✓ |
Emirati; ethnicities |
| Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens |
|
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| Integrating single-cell RNA-seq and bulk RNA-seq to construct a neutrophil prognostic model for predicting prognosis and immune response in oral squamous cell carcinoma |
|
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| Identifying PTAFR as a hub gene in atherosclerosis: implications for NETosis and disease progression |
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