Prognostics and diagnostics/biomarkers

In this topical collection (307 articles)

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1. Research article

   Design and user experience testing of a polygenic score report: a qualitative study of prospective users

   Deanna G. Brockman, Lia Petronio, Jacqueline S. Dron, Bum Chul Kwon… Article:238

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2. Research article

   Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer

   Xueyun Huo, Dandan Feng, Shuangyue Zhang, Zhenkun Li, Xiaohong Li… Article:235

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3. Research article

   Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

   Gabrielle Wheway, N. Simon Thomas, Mary Carroll, Janice Coles… Article:234

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4. Research article

   Identification and validation of a novel immune-related signature associated with macrophages and CD8 T cell infiltration predicting overall survival for hepatocellular carcinoma

   Junyu Huo, Liqun Wu, Yunjin Zang Article:232

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5. Case report

   Compound heterozygous mutations in the LTBP2 gene associated with microspherophakia in a Chinese patient: a case report and literature review

   Manhua Xu, Kaiming Li, Weimin He Article:227

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6. Research article

   Lung disease network reveals impact of comorbidity on SARS-CoV-2 infection and opportunities of drug repurposing

   Asim Bikas Das Article:226

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7. Case report

   Genomic analysis of circulating tumor cells in adenosquamous carcinoma of the prostate: a case report

   Junji Kitamura, Satoru Taguchi, Takatsugu Okegawa, Kazuki Honda… Article:217

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8. Case report

   Multiple malignant tumors in a patient with familial chordoma, a case report

   Nuttavut Sumransub, Paari Murugan, Shelly Marette, Denis R. Clohisy… Article:213

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9. Research article

   Association of VEGF haplotypes with breast cancer risk in North-West Indians

   Vasudha Sambyal, Kamlesh Guleria, Ruhi Kapahi, Mridu Manjari… Article:209

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10. Case report

    Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

    Guoqiang Li, Guoying Chang, Chen Wang, Tingting Yu, Niu Li… Article:207

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11. Case report

    Brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review

    Daiichiro Ishigami, Satoru Miyawaki, Hirofumi Nakatomi… Article:205

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12. Case report

    Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

    Hoo Young Lee, Dae-Hyun Jang, Jae-Won Kim, Dong-Woo Lee… Article:204

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13. Case report

    A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report

    Qianwen Zhang, Ruen Yao, Qun Li, Xin Li, Biyun Feng, Guoying Chang… Article:201

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14. Case report

    A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report

    Cong Zhou, Yuanyuan Xiao, Hanbing Xie, Shanling Liu, Jing Wang Article:200

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15. Research article

    Multi-factor regulatory network and different clusters in hypertrophic obstructive cardiomyopathy

    Xianyu Qin, Lei Huang, Sicheng Chen, Shaoxian Chen, Pengju Wen… Article:199

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16. Research article

    CDK1 and CCNB1 as potential diagnostic markers of rhabdomyosarcoma: validation following bioinformatics analysis

    Qianru Li, Liang Zhang, Jinfang Jiang, Yangyang Zhang… Article:198

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17. Case report

    Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report

    Tugce Bozkurt, Yasemin Alanay, Ugur Isik, Ugur Sezerman Article:197

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18. Research article

    RNA-seq from archival FFPE breast cancer samples: molecular pathway fidelity and novel discovery

    Nathan D. Pennock, Sonali Jindal, Wesley Horton, Duanchen Sun… Article:195

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19. Research article

    Competitive endogenous RNA (ceRNA) regulation network of lncRNAs, miRNAs, and mRNAs in Wilms tumour

    Fucai Tang, Zechao Lu, Jiamin Wang, Zhibiao Li, Weijia Wu… Article:194

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20. Research article

    Systematic computational identification of prognostic cytogenetic markers in neuroblastoma

    Chao Qin, Xiaoyan He, Yanding Zhao, Chun-Yip Tong, Kenneth Y. Zhu… Article:192

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