Associated Papers
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
39794422 (PubMed )
Supplement: 41698_2024_788_MOESM7_ESM.xlsx › patient_10_panel_small_variants
Deep analysis of the major histocompatibility complex genetic associations using covariate analysis and haploblocks unravels new mechanisms for the molecular etiology of Elite Control in AIDS.
Rahmouni M et al.
Bmc Immunology, 2025
39762745 (PubMed )
Supplement: 12865_2024_680_MOESM2_ESM.xlsx › Supp-table5
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14
Polymorphisms and gene expression of Notch4 in pulmonary tuberculosis.
Fang W et al.
Frontiers in Immunology, 2023
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations
Detection and interpretation of shared genetic influences on 42 human traits.
Pickrell JK et al.
Nature Genetics, 2016
27182965 (PubMed )
Supplement: NIHMS780506-supplement-9.pdf
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Lu C et al.
Cold Spring Harbor Molecular Case Studies, 2016
27148581 (PubMed )
Supplement: supp_2.1.a000687_Supp_Table_2.xlsx › germline.missense
Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.
Jiang DK et al.
Hepatology (baltimore, Md.), 2015
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ et al.
Plos Genetics, 2015
25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs
Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.
Olsson E et al.
Plos One, 2015
26670335 (PubMed )
Supplement: pone.0144528.s006.xlsx › TableS4
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain
Genetic variants in the NOTCH4 gene influence the clinical features of migraine.
Rubino E et al.
The Journal of Headache and Pain, 2013
Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis.
Scott AP et al.
Journal of Neuroimmunology, 2012
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