Whole genome sequencing ▲ Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)




Last Updated: Sep 07, 2016

• Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis.
  Gaastra Benjamin, et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2016 9 1-7
• Outbreak investigation for toxigenic Corynebacterium diphtheriae wound infections in refugees from Northeast Africa and Syria in Switzerland and Germany by whole genome sequencing.
  Meinel Dominik M, Kuehl Richard, Zbinden Reinhard, Boskova Veronika, Garzoni Christian, Fadini Davide, Dolina Marisa, Blümel Benjamin, Weibel Thomas, Tschudin-Sutter Sarah, Widmer Andreas F, Bielicki Julia A, Dierig Alexa, Heininger Ulrich, Konrad Regina, Berger Anja, Hinic Vladimira, Goldenberger Daniel, Blaich Annette, Stadler Tanja, Battegay Manuel, Sing Andreas, Egli Adrian.Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2016 Aug
• Whole Genome Sequencing for Genomics-Guided Investigations of Escherichia coli O157:H7 Outbreaks.
  Rusconi Brigida et al. Frontiers in microbiology 2016 985
• Homozygous DNAH1 frame-shift mutation causes multiple morphological anomalies of the sperm flagella (MMAF) in Chinese.
  Wang Xiong, et al. Clinical genetics 2016 8
• Canaries in the coal mine: Personal and professional impact of undergoing whole genome sequencing on medical professionals.
  Zierhut Heather et al. American journal of medical genetics. Part A 2015 Nov 167A(11) 2647-56
• Navigating Microbiological Food Safety in the Era of Whole-Genome Sequencing.
  Ronholm J, Nasheri Neda, Petronella Nicholas, Pagotto Franco.Clinical microbiology reviews 2016 Oct (4) 837-57
• What's in a Name? Species-Wide Whole-Genome Sequencing Resolves Invasive and Noninvasive Lineages of Salmonella enterica Serotype Paratyphi B.
  Connor Thomas R, Owen Sian V, Langridge Gemma, Connell Steve, Nair Satheesh, Reuter Sandra, Dallman Timothy J, Corander Jukka, Tabing Kristine C, Le Hello Simon, Fookes Maria, Doublet Benoît, Zhou Zhemin, Feltwell Theresa, Ellington Matthew J, Herrera Silvia, Gilmour Matthew, Cloeckaert Axel, Achtman Mark, Parkhill Julian, Wain John, De Pinna Elizabeth, Weill François-Xavier, Peters Tansy, Thomson Nick.mBio 2016 (4)
• Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer's disease.
  Nho Kwangsik, et al. BMC medical genomics 2016 0 30
• Using whole genome sequencing to identify resistance determinants and predict antimicrobial resistance phenotypes for year 2015 invasive pneumococcal disease isolates recovered in the United States.
  Metcalf Benjamin J et al. Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2016 Aug
• Genome-wide characteristics of de novo mutations in autism.
  Yuen Ryan K C, et al. NPJ genomic medicine 2016 8 160271-1602710
• Stakeholder consultation insights on the future of genomics at the clinical-public health interface.
  Modell Stephen M et al. Translational research : the journal of laboratory and clinical medicine 2014 May 163(5) 466-77
• Whole-genome sequencing of multidrug-resistant Mycobacterium tuberculosis isolates from Myanmar.
  Aung Htin Lin, Tun Thanda, Moradigaravand Danesh, Köser Claudio U, Nyunt Wint Wint, Aung Si Thu, Lwin Thandar, Thinn Kyi Kyi, Crump John A, Parkhill Julian, Peacock Sharon J, Cook Gregory M, Hill Philip C.Journal of global antimicrobial resistance 2016 May 113-117
• Mycobacterium tuberculosis whole genome sequencing and protein structure modelling provides insights into anti-tuberculosis drug resistance.
  Phelan Jody, Coll Francesc, McNerney Ruth, Ascher David B, Pires Douglas E V, Furnham Nick, Coeck Nele, Hill-Cawthorne Grant A, Nair Mridul B, Mallard Kim, Ramsay Andrew, Campino Susana, Hibberd Martin L, Pain Arnab, Rigouts Leen, Clark Taane G.BMC medicine 2016 31
• Whole genome sequencing analysis of Salmonella Enteritidis isolated in Chile provides insights about possible transmission between gulls, poultry and humans.
  Toro Magaly, Retamal Patricio, Ayers Sherry, Barreto Marlen, Allard Marc, Brown Eric W, Gonzalez-Escalona Narjol.Applied and environmental microbiology 2016 Aug
• Whole-Genome Sequencing Analysis of Serially Isolated Multi-Drug and Extensively Drug Resistant Mycobacterium tuberculosis from Thai Patients.
  Faksri Kiatichai, Tan Jun Hao, Disratthakit Areeya, Xia Eryu, Prammananan Therdsak, Suriyaphol Prapat, Khor Chiea Chuen, Teo Yik-Ying, Ong Rick Twee-Hee, Chaiprasert Angkana.PloS one 0 (8) e0160992

• CDC Information (11)
• CDC-Authored Pub (20)

• Human (51)
• Pathogen (65)

• Human (132)
• Pathogen (78)

• Human (59)
• Pathogen (25)

• Guidelines (3)
• Tier Table (0)
• Synthesis (5)

• Human (0)
• Pathogen (7)

Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB