| MutationalPatterns: comprehensive genome-wide analysis of mutational processes |
67 |
| Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations |
60 |
| Genomics of response to immune checkpoint therapies for cancer: implications for precision medicine |
31 |
| Molecular and pharmacological modulators of the tumor immune contexture revealed by deconvolution of RNA-seq data |
30 |
| Impact of the gut microbiome on the genome and epigenome of colon epithelial cells: contributions to colorectal cancer development |
30 |
| Genomics of circadian rhythms in health and disease |
28 |
| Radiation therapy and anti-tumor immunity: exposing immunogenic mutations to the immune system |
28 |
| Comprehensive characterization of circular RNAs in similar to 1000 human cancer cell lines |
25 |
| Cell-free DNA profiling of metastatic prostate cancer reveals microsatellite instability, structural rearrangements and clonal hematopoiesis |
24 |
| Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccines |
24 |
| Best practices for bioinformatic characterization of neoantigens for clinical utility |
23 |
| Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework |
22 |
| Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease |
21 |
| Single-cell analysis reveals congruence between kidney organoids and human fetal kidney |
21 |
| Tracking key virulence loci encoding aerobactin and salmochelin siderophore synthesis in Klebsiella pneumoniae |
20 |
| Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder |
20 |
| Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension |
20 |
| BAP1 haploinsufficiency predicts a distinct immunogenic class of malignant peritoneal mesothelioma |
20 |
| Exposure to the gut microbiota drives distinct methylome and transcriptome changes in intestinal epithelial cells during postnatal development |
20 |
| Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing |
20 |
| Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing |
19 |
| Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy |
19 |
| Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinoma |
18 |
| Reconstruction of full-length circular RNAs enables isoform-level quantification |
18 |
| Integrative analysis of DNA methylation and gene expression reveals hepatocellular carcinoma-specific diagnostic biomarkers |
18 |
| Integrating informatics tools and portable sequencing technology for rapid detection of resistance to anti-tuberculous drugs |
17 |
| A validated single-cell-based strategy to identify diagnostic and therapeutic targets in complex diseases |
17 |
| Footprints of antigen processing boost MHC class II natural ligand predictions |
17 |
| Prognostic value of B cells in cutaneous melanoma |
17 |
| Host genetic variation and its microbiome interactions within the Human Microbiome Project |
17 |
| Single-cell transcriptome analysis of lineage diversity in high-grade glioma |
17 |
| Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations |
16 |
| Landscape of genomic alterations in high-grade serous ovarian cancer from exceptional long- and short-term survivors |
15 |
| Identifying chemogenetic interactions from CRISPR screens with drugZ |
14 |
| Advanced model systems and tools for basic and translational human immunology |
14 |
| Clinical utility of custom-designed NGS panel testing in pediatric tumors |
14 |
| Increased DNA methylation variability in rheumatoid arthritis-discordant monozygotic twins |
13 |
| Distinct microbes, metabolites, and ecologies define the microbiome in deficient and proficient mismatch repair colorectal cancers |
13 |
| Single-cell transcriptomics reveal that PD-1 mediates immune tolerance by regulating proliferation of regulatory T cells |
12 |
| Elevated polygenic burden for autism is associated with differential DNA methylation at birth |
12 |
| Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis |
12 |
| Recent advances in immunotherapies: from infection and autoimmunity, to cancer, and back again |
11 |
| Deciphering drug resistance in Mycobacterium tuberculosis using whole-genome sequencing: progress, promise, and challenges |
11 |
| A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing |
11 |
| Translating insights into tumor evolution to clinical practice: promises and challenges |
11 |
| PanDrugs: a novel method to prioritize anticancer drug treatments according to individual genomic data |
10 |
| From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards |
10 |
| From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability |
10 |
| TCF21 and AP-1 interact through epigenetic modifications to regulate coronary artery disease gene expression |
10 |
| A genome-wide siRNA screen identifies a druggable host pathway essential for the Ebola virus life cycle |
9 |
