| Identification of drug repurposing candidates based on a miRNA-mediated drug and pathway network for cardiac hypertrophy and acute myocardial infarction |
|
|
|
|
|
|
|
|
|
| Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance |
|
|
|
|
|
|
|
|
|
| Perceptions of students in health and molecular life sciences regarding pharmacogenomics and personalized medicine |
|
|
|
|
|
|
|
|
|
| Bayesian variable selection for parametric survival model with applications to cancer omics data |
|
|
|
|
|
|
|
|
|
| Multiple genotype–phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population |
|
|
|
|
|
|
✓ |
|
Korean population |
| Link between short tandem repeats and translation initiation site selection |
|
|
|
|
|
|
|
|
|
| Identification of gross deletions in FBN1 gene by MLPA |
|
|
|
|
|
|
|
|
|
| Impact of ZBTB7A hypomethylation and expression patterns on treatment response to hydroxyurea |
|
|
|
|
|
|
|
|
|
| Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes |
|
|
|
|
|
|
|
|
|
| Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing |
|
|
|
|
|
|
|
|
|
| Secondary findings in 421 whole exome-sequenced Chinese children |
|
|
|
|
|
|
✓ |
|
Chinese |
| Linking a role of lncRNAs (long non-coding RNAs) with insulin resistance, accelerated senescence, and inflammation in patients with type 2 diabetes |
|
|
|
|
|
|
|
|
|
| Forward and reverse mutations in stages of cancer development |
|
|
|
|
|
|
|
|
|
| BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population |
|
|
|
|
|
|
|
|
|
| The impact of genome-wide association studies on biomedical research publications |
|
|
|
|
|
|
|
|
|
| Associations of high-altitude polycythemia with polymorphisms in PIK3CD and COL4A3 in Tibetan populations |
|
|
|
|
|
|
|
|
|
| A new bioinformatics tool to help assess the significance of BRCA1 variants |
|
|
|
|
|
|
|
|
|
| A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa |
|
|
|
|
|
|
|
|
|
| Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients |
|
|
|
|
|
|
|
|
|
| Abundance of clinical variants in exons included in multiple transcripts |
|
|
|
|
|
|
|
|
|
| Caution needs to be taken when assigning transcription start sites to ends of protein-coding genes: a rebuttal |
|
|
|
|
|
|
|
|
|
| The tale of histone modifications and its role in multiple sclerosis |
|
|
|
|
|
|
|
|
|
| Computational analysis of mRNA expression profiling in the inner ear reveals candidate transcription factors associated with proliferation, differentiation, and deafness |
|
|
|
|
|
|
|
|
|
| Oxidative stress-induced chromosome breaks within the ABL gene: a model for chromosome rearrangement in nasopharyngeal carcinoma |
|
|
|
|
|
|
|
|
|
| Associations between hypertension and the peroxisome proliferator-activated receptor-δ (PPARD) gene rs7770619 C>T polymorphism in a Korean population |
|
|
|
|
|
|
|
|
|
| Integrating rare genetic variants into pharmacogenetic drug response predictions |
|
|
|
|
|
|
|
|
|
| Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity |
|
|
|
|
|
|
|
|
|
| Nonparametric approaches for population structure analysis |
|
|
|
|
|
|
|
|
|
| Better governance, better access: practising responsible data sharing in the METADAC governance infrastructure |
|
|
|
|
|
|
|
|
|
| Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading |
|
|
|
|
|
|
|
|
|
| Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community |
|
|
|
|
|
|
|
|
|
| Genome-scale portrait and evolutionary significance of human-specific core promoter tri- and tetranucleotide short tandem repeats |
|
|
|
|
|
|
|
|
|
| The development of large-scale de-identified biomedical databases in the age of genomics—principles and challenges |
|
|
|
|
|
|
|
|
|
| Tensions in ethics and policy created by National Precision Medicine Programs |
|
|
|
|
|
|
|
|
|
| Public attitudes in Japan toward participation in whole genome sequencing studies |
|
|
|
|
|
|
|
|
|
| Correlation of gene expression and associated mutation profiles of APOBEC3A, APOBEC3B, REV1, UNG, and FHIT with chemosensitivity of cancer cell lines to drug treatment |
|
|
|
|
|
|
|
|
|
| Large-scale discovery of previously undetected microRNAs specific to human liver |
|
|
|
|
|
|
|
|
|
| Transcription start sites at the end of protein-coding genes |
|
|
|
|
|
|
|
|
|
| Abstracts from the Human Genome Meeting 2018 |
|
|
|
|
|
|
|
|
|
| 2-deoxy-2-[18]fluoro-D-glucose PET/CT (18FDG PET/CT) may not be a viable biomarker in Pompe disease |
|
|
|
|
|
|
|
|
|
| Including all voices in international data-sharing governance |
|
|
|
|
|
|
|
|
|
| Attitudes of stakeholders in psychiatry towards the inclusion of children in genomic research |
|
|
|
|
|
|
|
|
|
| A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features |
|
|
|
|
|
|
|
|
|
| Yale School of Public Health Symposium on tissue imaging mass spectrometry: illuminating phenotypic heterogeneity and drug disposition at the molecular level |
|
|
|
|
|
|
|
|
|
| Insights about genome function from spatial organization of the genome |
|
|
|
|
|
|
|
|
|
| APPLaUD: access for patients and participants to individual level uninterpreted genomic data |
|
|
|
|
|
|
|
|
|
| The genetic structure of the Belgian population |
|
|
|
|
|
|
|
|
|
| Meeting report of the 2017 KidGen Renal Genetics Symposium |
|
|
|
|
|
|
|
|
|
| Beyond genomics: understanding exposotypes through metabolomics |
|
|
|
|
|
|
|
|
|
| Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly |
|
|
|
|
|
|
|
|
|
| Identify Down syndrome transcriptome associations using integrative analysis of microarray database and correlation-interaction network |
|
|
|
|
|
|
|
|
|
| Ensemble genomic analysis in human lung tissue identifies novel genes for chronic obstructive pulmonary disease |
|
|
|
|
|
|
|
|
|