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Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0664-4
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- Publication type:
- Article
Mapping genetic interactions in cancer: a road to rational combination therapies.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0680-4
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- Publication type:
- Article
Relating the gut metagenome and metatranscriptome to immunotherapy responses in melanoma patients.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0672-4
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- Publication type:
- Article
Hidden Markov models lead to higher resolution maps of mutation signature activity in cancer.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0659-1
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- Publication type:
- Article
Identification of intermediate-sized deletions and inference of their impact on gene expression in a human population.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0656-4
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- Publication type:
- Article
Neoantigen-specific immunity in low mutation burden colorectal cancers of the consensus molecular subtype 4.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0697-8
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- Publication type:
- Article
Epigenetic therapy of myelodysplastic syndromes connects to cellular differentiation independently of endogenous retroelement derepression.
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- Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0707-x
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- Publication type:
- Article
Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.
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- Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0698-7
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- Publication type:
- Article
Genomics of circadian rhythms in health and disease.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0704-0
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- Publication type:
- Article
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
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- Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0702-2
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- Publication type:
- Article
FIREVAT: finding reliable variants without artifacts in human cancer samples using etiologically relevant mutational signatures.
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- Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0695-x
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- Publication type:
- Article
A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0694-y
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- Publication type:
- Article
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0676-0
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- Publication type:
- Article
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0692-0
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- Publication type:
- Article
Text-mining clinically relevant cancer biomarkers for curation into the CIViC database.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0686-y
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- Publication type:
- Article
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
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- Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0683-1
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- Publication type:
- Article
Standard operating procedure for curation and clinical interpretation of variants in cancer.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0687-x
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- Publication type:
- Article
Genomic screening and genomic diagnostic testing—two very different kettles of fish.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0696-9
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- Publication type:
- Article
Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0682-2
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- Publication type:
- Article
Immune receptor repertoires in pediatric and adult acute myeloid leukemia.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0681-3
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- Publication type:
- Article
Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0688-9
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- Publication type:
- Article
Neoantigens and genome instability: impact on immunogenomic phenotypes and immunotherapy response.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0684-0
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- Publication type:
- Article
Artificial intelligence in clinical and genomic diagnostics.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0689-8
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- Publication type:
- Article
Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0685-z
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- Publication type:
- Article
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.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0675-1
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- Publication type:
- Article
pTuneos: prioritizing tumor neoantigens from next-generation sequencing data.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0679-x
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- Publication type:
- Article
Inflammatory cytokines and organ dysfunction associate with the aberrant DNA methylome of monocytes in sepsis.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0674-2
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- Publication type:
- Article
Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0678-y
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- Publication type:
- Article
NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0677-z
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- Publication type:
- Article
Long non-coding RNAs identify a subset of luminal muscle-invasive bladder cancer patients with favorable prognosis.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0669-z
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- Publication type:
- Article
Advances in omics-based methods to identify novel targets for malaria and other parasitic protozoan infections.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0673-3
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- Publication type:
- Article
Identifying Crohn's disease signal from variome analysis.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0670-6
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- Publication type:
- Article
Genetic underpinnings of recovery after stroke: an opportunity for gene discovery, risk stratification, and precision medicine.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0671-5
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- Publication type:
- Article
The relationship between insomnia and complex diseases—insights from genetic data.
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- 2019
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- Publication type:
- Letter
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0658-2
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- Publication type:
- Article
Integrating informatics tools and portable sequencing technology for rapid detection of resistance to anti-tuberculous drugs.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0650-x
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- Publication type:
- Article
Best practices for bioinformatic characterization of neoantigens for clinical utility.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0666-2
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- Publication type:
- Article
Comprehensive characterization of circular RNAs in ~ 1000 human cancer cell lines.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0663-5
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- Publication type:
- Article
Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0667-1
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- Publication type:
- Article
Identifying chemogenetic interactions from CRISPR screens with drugZ.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0665-3
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- Publication type:
- Article
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0651-9
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- Publication type:
- Article
A validated single-cell-based strategy to identify diagnostic and therapeutic targets in complex diseases.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0657-3
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- Publication type:
- Article
Advancing cancer immunotherapy: a vision for the field.
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- 2019
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- Publication type:
- Editorial
Correction to: Molecular and pharmacological modulators of the tumor immune contexture revealed by deconvolution of RNA-seq data.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0644-8
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- Publication type:
- Article
Single-cell analysis reveals congruence between kidney organoids and human fetal kidney.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0615-0
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- Publication type:
- Article
Deciphering drug resistance in Mycobacterium tuberculosis using whole-genome sequencing: progress, promise, and challenges.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0660-8
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- Publication type:
- Article
The good, the bad, and the ugly: hyperprogression in cancer patients following immune checkpoint therapy.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0661-7
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- Publication type:
- Article
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0654-6
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- Publication type:
- Article
TCF21 and AP-1 interact through epigenetic modifications to regulate coronary artery disease gene expression.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0635-9
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- Publication type:
- Article