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OALib Journal期刊
ISSN: 2333-9721
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ISSN Print: 2056-7944

ISSN Online:

主页: https://www.nature.com/npjgenmed

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Integrative analysis with expanded DNA methylation data reveals common key regulators and pathways in cancers

RNA sequencing identifies clonal structure of T-cell repertoires in patients with adult T-cell leukemia/lymphoma

A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

Glucocorticoid-resistant B cell acute lymphoblastic leukemia displays receptor tyrosine kinase activation

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

Both rare and common genetic variants contribute to autism in the Faroe Islands

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

HHV-6 encoded small non-coding RNAs define an intermediate and early stage in viral reactivation

Chemical genetic-based phenotypic screen reveals novel regulators of gluconeogenesis in human primary hepatocytes

Mutation load estimation model as a predictor of the response to cancer immunotherapy

Signaling pathway screening platforms are an efficient approach to identify therapeutic targets in cancers that lack known driver mutations: a case report for a cancer of unknown primary origin

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion

A robust targeted sequencing approach for low input and variable quality DNA from clinical samples

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

A phenotype centric benchmark of variant prioritisation tools

Whole-genome transcriptomic insights into protective molecular mechanisms in metabolically healthy obese African Americans

Pan-cancer screen for mutations in non-coding elements with conservation and cancer specificity reveals correlations with expression and survival

Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours

Improving imputation in disease-relevant regions: lessons from cystic fibrosis

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number

Complex genetics of female fertility

Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer

Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy

Identification of an immune gene expression signature associated with favorable clinical features in Treg-enriched patient tumor samples

TAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey

Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression

Responsible sharing of biomedical data and biospecimens via the “Automatable Discovery and Access Matrix” (ADA-M)

User considerations in assessing pharmacogenomic tests and their clinical support tools

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family

New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis

Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP)

Incorporating epilepsy genetics into clinical practice: a 360°evaluation

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Predictors of next-generation sequencing panel selection using a shared decision-making approach

©2008-2017 OALib, Inc | Public user content licensed CC-BY 4.0 unless otherwise specified. OALib ISSN Online: 2333-9721 OALib ISSN Print: 2333-9705