Specific PHGKB|Rare Diseases PHGKB|PHGKB

Specific PHGKB|Rare Diseases PHGKB|PHGKB

Rare Diseases

- Rare Diseases PHGKB -

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Last Posted: Sep 21, 2020

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• Early Evidence of Effectiveness of Digital Contact Tracing for SARS-CoV-2 in Switzerland 
  M Salathe et al, MEDRXIV, September 19, 2020
• Emergence and expansion of highly infectious spike:D614G mutant SARS-CoV-2 in central India 
  S Sharma et al, BIORXIV, September 17, 2020
• Genomic epidemiology of the Los Angeles COVID-19 outbreak 
  L Guo et al, MEDRXIV, September 18, 2020
• KIM-1/TIM-1 is a Receptor for SARS-CoV-2 in Lung and Kidney 
• Meta-analysis of the clinical performance of commercial SARS-CoV-2 nucleic acid, antigen and antibody tests up to 22 August, 2020 
  IV Walle et al, MEDRXIV, September 18, 2020
• Mutational signatures in countries affected by SARS-CoV-2: Implications in host-pathogen interactome 
  J Singh et al, BIORXIV, September 17, 2020
• RPA-Based Method For The Detection Of SARS-CoV2 
  AA Nassir et al, MEDRXIV, September 18, 2020
• Study Finds Methods for Alpha-Thalassemia Screening and Reporting Vary Across Newborn Screening Programs
  CDC, September 2020
• Measurement of SARS-CoV-2 RNA in wastewater tracks community infection dynamics 
  J Peccia et al, Nature Biotechnology, September 18, 2020
• Ultrasensitive and visual detection of SARS-CoV-2 using all-in-one dual CRISPR-Cas12a assay 
  X Ding et al, Nat Comm, September 18, 2020
• Comparison of media and standards for SARS-CoV-2 RT-qPCR without prior RNA preparation 
  KB Ragan et al, MEDRXIV, September 17, 2020
• Implementing Cancer Genomics in State Health Agencies: Mapping Activities to an Implementation Science Outcome Framework. 
  Green Ridgely Fisk et al. Public health genomics 2020 Sep 1-12
• Optimizing direct RT-LAMP to detect transmissible SARS-CoV-2 from primary nasopharyngeal swab and saliva patient samples 
  DM Dudley et al, MEDRXIV, September 17, 2020
• Predictors of characteristics associated with negative SARS-CoV-2 PCR test despite proven disease and association with treatment and outcomes. The COVID-19 RT-PCR Study. 
  JB Lascarou et al, MEDRXIV, September 15, 2020
• Quantifying SARS-CoV-2 infection risk within the Google/Apple exposure notification framework to inform quarantine recommendations 
  AM Wilson et al, MEDRXIV, September 14, 2020
• SARS-CoV-2 Nasopharyngeal Swab Testing—False-Negative Results From a Pervasive Anatomical Misconception 
  TS Higgins et al, JAMA Oto Laryngo, September 17, 2020
• [Clinical screening and genetic diagnosis for Prader-Willi syndrome]. 
  Dong Guo-Qing et al. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2020 Sep 22(9) 1001-1006
• [Clinical significance of non-invasive prenatal testing in preventing birth defects]. 
  Zhang Weihua et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Oct 37(10) 1061-1064
• A Novel RNA-Seq-Based Model for Preoperative Prediction of Lymph Node Metastasis in Oral Squamous Cell Carcinoma. 
  Qiao Bo et al. BioMed research international 2020 20204252580
• A Retrospective Analysis of the Relationship Between the Result of BRCA1/2 Genetic Testing and Surgical Method Selection in Japan. 
  Inuzuka Mayuko et al. Clinical breast cancer 2020 Aug