Genome Medicine

Best practices for bioinformatic characterization of neoantigens for clinical utility

BAP1 haploinsufficiency predicts a distinct immunogenic class of malignant peritoneal mesothelioma

Reconstruction of full-length circular RNAs enables isoform-level quantification

Comprehensive characterization of circular RNAs in ~\u20091000 human cancer cell lines

Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing

Somatic mutation and clonal expansions in human tissues

Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinoma

A validated single-cell-based strategy to identify diagnostic and therapeutic targets in complex diseases

Circular RNAs as promising biomarkers in cancer: detection, function, and beyond

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Artificial intelligence in clinical and genomic diagnostics

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar

Inflammatory cytokines and organ dysfunction associate with the aberrant DNA methylome of monocytes in sepsis

Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium

Prioritizing putative influential genes in cardiovascular disease susceptibility by applying tissue-specific Mendelian randomization

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Relating the gut metagenome and metatranscriptome to immunotherapy responses in melanoma patients

Digital twins to personalize medicine

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

Evolving neoantigen profiles in colorectal cancers with DNA repair defects

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

A modular transcriptome map of mature B cell lymphomas

Neoantigens and genome instability: impact on immunogenomic phenotypes and immunotherapy response

A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation

Mapping genetic interactions in cancer: a road to rational combination therapies

Advances in omics-based methods to identify novel targets for malaria and other parasitic protozoan infections

pTuneos: prioritizing tumor neoantigens from next-generation sequencing data

NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants

Dissecting lung development and fibrosis at single-cell resolution

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders

Genomic screening and genomic diagnostic testing—two very different kettles of fish

An epigenome-wide association study of sex-specific chronological ageing

Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores

Associating somatic mutations to clinical outcomes: a pan-cancer study of survival time

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank

Keeping up with the genomes: scaling genomic variant interpretation

Immune receptor repertoires in pediatric and adult acute myeloid leukemia

Translating genomic medicine to the clinic: challenges and opportunities

Hidden Markov models lead to higher resolution maps of mutation signature activity in cancer

Identifying Crohn’s disease signal from variome analysis

The relationship between insomnia and complex diseases—insights from genetic data

Epigenetic therapy of myelodysplastic syndromes connects to cellular differentiation independently of endogenous retroelement derepression

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Text-mining clinically relevant cancer biomarkers for curation into the CIViC database

Correction to: NSAID use and somatic exomic mutations in Barrett’s esophagus