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Volume 33  Number 11  September 18-25, 2014About the Update


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Reports and Publications

Birth Defects & Child Health

Genomics in Practice

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A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium.
Leming Shi et al, Nature Biotechnology, 2014; 32 (9): 903

Multi-platform assessment of transcriptome profiling using RNA-seq in the ABRF next-generation sequencing study.
Christopher E Mason et al, Nature Biotechnology, 2014; 32 (9): 915

The concordance between RNA-seq and microarray data depends on chemical treatment and transcript abundance.
Weida Tong et al, Nature Biotechnology, 2014; 32 (9): 926

The devil in the details of RNA-seq.
Anton Kratz, Piero Carninci Nature Biotechnology, 2014; 32 (9): 882

Worldwide study demonstrates accuracy of genetic analyses, Science Daily, Sep 12   

A systematic review of factors that act as barriers to patient referral to genetic services
Delikurt T, et al. Eur J Hum Genet 2014 Sep

Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN)
Li FY, et al. Eur J Hum Genet 2014 Sep

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Zemojtel T, et al. Sci Transl Med. 2014 Sep 3;6(252):252ra123.

New diagnostic method identifies genetic diseases, Medical Xpress, Sep 16

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders Valérie Biancalana et al. EJHG, September 17, 2017

Primary-care providers’ perceived barriers to integration of genetics services: a systematic review of the literature
Mikat-Stevens NA, et al. Genet Med. 2014 Sep 11. doi: 10.1038/gim.2014.101.

Barriers to genetics in primary care, by Rebecca Burbidge and Dr Philippa Brice, PHG Foundation, Sep 16

Infectious Diseases

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Superbugs meet their match in rapid genome sequencing. Close to real-time tracking of deadly superbugs such as MRSA promises to close down outbreaks faster and save lives. Ian Sample, the Guardian, Sep 12

Vaginal microbe yields novel antibiotic. Drug is one of thousands that may be produced by the human microbiome, by Erika Check Hayden, Nature News, Sep 11 

Emerging viral diseases: confronting threats with new technologies
Marston HD, et al. Sci Transl Med 2014; 6(253): 253ps10. 

Ancient-pathogen genomics: coming of age?
Whatmore AM. mBio 2014;5(5):01676-14.

Serotyping of pneumococci: evaluation of the genetic approach and performance with clinical samples
Burckhardt I, et al. Diag Microbiol Infect Dis, Sep 2, 2014.

Point-of-care testing for Clostridium difficile infection: a real-world feasibility study of a rapid molecular test in two hospital settings
Goldenberg SD, et al. Infect Dis Ther, Sep 10, 2014.

Evaluation of the illumigene C. difficile assay for toxigenic Clostridium difficile detection: a prospective study of 302 consecutive clinical fecal samples
Hong G, et al. Diag Microbiol Infect Dis, Sep 5, 2014.

Cost and impact on patient length of stay of rapid molecular testing for Clostridium difficile
Sewell B, et al. Infect Dis Ther, Sep 3, 2014.

Rapid point of care diagnostic tests for viral and bacterial respiratory tract infections—needs, advances, and future prospects
Zumla A, et al. Lancet Infect Dis, Sep 1, 2014.

Infectious diseases and tropical disease pathology: SC16-1 Needle in a haystack: the new world of diagnostics for micro-organisms
Milner DA Jr. Pathology. 2014 Oct;46 Suppl 2:S26.

Transcriptional correlates of disease outcome in anticoagulant-treated non-human primates infected with Ebolavirus
Garamszegi S, et al. PLoS Negl Trop Dis 8(7): e3061.

HLA Class I and KIR genes do not protect against HIV type 1 infection in highly exposed uninfected individuals with hemophilia A
Vince N, et al. Infect Dis. 2014; 210(7): 1047-1051.

Genomic surveillance elucidates Ebola virus origin and transmission during the 2014 outbreak
Stephen K. Gire, et al. Science, September 12, 2014

Accuracy of urinary human papillomavirus testing for presence of cervical HPV: systematic review and meta-analysis.
BMJ 2014; 349

Urine testing for HPV.
Henry C Kitchener. BMJ 2014; 349

Tools and Databases

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Comparative Toxicogenomics Database: provides information on effects of environmental chemicals on human health by integrating data on chemical interactions with genes and proteins, and associations between diseases and chemicals

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CDC-Authored Genomics Publications

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CDC authors are indicated in bold

Outbreak of hepatitis A in the USA associated with frozen pomegranate arils imported from Turkey: an epidemiological case study
Collier MG1, Khudyakov YE, Selvage D, Adams-Cameron M, Epson E, Cronquist A, Jervis RH, Lamba K, Kimura AC, Sowadsky R, Hassan R, Park SY, Garza E, Elliott AJ, Rotstein DS, Beal J, Kuntz T, Lance SE, Dreisch R, Wise ME, Nelson NP, Suryaprasad A, Drobeniuc J, Holmberg SD, Xu F; for the Hepatitis A Outbreak Investigation Team. Lancet Infect Dis. 2014 Sep 3. pii: S1473-3099(14)70883-7.

Genomic epidemiology of Salmonella enterica serotype enteritidis based on population structure of prevalent lineages
Deng X, et al. Emerg Infect Dis, Sep 2014.

Reducing the burden of disease and death from familial hypercholesterolemia: A call to action
Joshua W. Knowles, Emily C. O’Brien, Karen Greendale, Katherine Wilemon, Jacques Genest, Laurence S. Sperling, William A. Neal, Daniel J. Rader, Muin J. Khoury.  American Heart Journal 2014 Sept 16

Identification of molecular markers associated with alteration of receptor-binding specificity in a novel genotype of highly pathogenic avian influenza A(H5N1) viruses detected in Cambodia in 2013.
Rith S, Davis CT, Duong V, Sar B, Horm SV, Chin S, Ly S, Laurent D, Richner B, Oboho I, Jang Y, Davis W, Thor S, Balish A, Iuliano AD, Sorn S, Holl D, Sok T, Seng H, Tarantola A, Tsuyuoka R, Parry A, Chea N, Allal L, Kitsutani P, Warren D, Prouty M, Horwood P, Widdowson MA, Lindstrom S, Villanueva J, Donis R, Cox N, Buchy P. J Virol. 2014 Sep 10. pii: JVI.01887-14.

View previous CDC-authored publications

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About the Genomics & Health Impact Update

The Update includes genomics and health impact news and publications, CDC announcements, reports, blogs, podcasts, and other products. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science.  Features of the week are archived under the Genomics & Health Resources A to Z page. To receive the update electronically every week sign-up here.


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The CDC Office of Public Health Genomics makes available the above information as a public service only. The items in the update come from news articles and scientific articles and abstracts published during the past week. The headlines and lead sentences are exactly as they appear & do not necessarily reflect the opinions, recommendations, or endorsement by the CDC.  Note that some links may become invalid over time.


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