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Somatic and germline analysis of a familial Rothmund–Thomson syndrome in two siblings with osteosarcoma.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00160-x
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Clinical utility of genomic sequencing: a measurement toolkit.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00164-7
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Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00150-z
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A flexible computational pipeline for research analyses of unsolved clinical exome cases.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00161-w
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A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00158-5
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Functional characterisation guides classification of novel BAP1 germline variants.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00157-6
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Intron retention is a robust marker of intertumoral heterogeneity in pancreatic ductal adenocarcinoma.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00159-4
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Missense variant contribution to USP9X-female syndrome.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00162-9
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The influence of common polygenic risk and gene sets on social skills group training response in autism spectrum disorder.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00152-x
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A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00144-x
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Children's rare disease cohorts: an integrative research and clinical genomics initiative.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0137-0
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Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00155-8
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Prevalence and types of inconsistencies in clinical pharmacogenetic recommendations among major U.S. sources.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00156-7
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Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9
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The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00153-w
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Improved detection of tumor suppressor events in single-cell RNA-Seq data.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00151-y
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The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00149-6
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Association of CNVs with methylation variation.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00145-w
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Multiple neoplasia in a patient with Gitelman syndrome harboring germline monoallelic MUTYH mutation.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00146-9
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Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00148-7
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Diagnostic utility of whole-genome sequencing for nephronophthisis.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00147-8
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metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0132-5
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Genes and genomes and unnecessary complexity in precision medicine.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0128-1
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Erlotinib sensitivity of MAPK1p.D321N mutation in head and neck squamous cell carcinoma.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0124-5
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Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00142-z
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Associations of the intestinal microbiome with the complement system in neovascular age-related macular degeneration.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00141-0
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Pharmacogenomics of COVID-19 therapies.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00143-y
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Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0138-z
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Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00140-1
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Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00139-8
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A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0135-2
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Exon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0136-1
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Personalised mapping of tumour development in synchronous colorectal cancer patients.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0134-3
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A glioneuronal tumor with CLIP2-MET fusion.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0131-6
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MutSpot: detection of non-coding mutation hotspots in cancer genomes.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0133-4
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Persistent STAG2 mutation despite multimodal therapy in recurrent pediatric glioblastoma.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0130-7
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Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0129-0
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Sequencing technology status of BRCA1/2 testing in Latin American Countries.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0126-3
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19p loss is significantly enriched in older age neuroblastoma patients and correlates with poor prognosis.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0125-4
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Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0121-8
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ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0123-6
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Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0127-2
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FHIR Genomics: enabling standardization for precision medicine use cases.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0115-6
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Emerging strategies to bridge the gap between pharmacogenomic research and its clinical implementation.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0119-2
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Whole slide images reflect DNA methylation patterns of human tumors.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0120-9
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MACROD2 deficiency promotes hepatocellular carcinoma growth and metastasis by activating GSK-3β/β-catenin signaling.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0122-7
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Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0118-3
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The special considerations of gene therapy for mitochondrial diseases.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0116-5
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Evaluating the promise of inclusion of African ancestry populations in genomics.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-019-0111-x
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Single-cell sperm transcriptomes and variants from fathers of children with and without autism spectrum disorder.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0117-4
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