Volume 33 Number 11 September 18-25, 2014About the Update
Familial Hypercholesterolemia Awareness Day
2014 Familial Hypercholesterolemia Global Summit: Bridging the Gaps
October 13-14 ~ New York, NY
Beyond the Genome: Cancer Genomics
October 8-10 ~ Boston, MA
October 18-22 ~ San Diego, CA
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Bradley P Coe et al. Nature Genetics, September 14, 2014
Adaptation of international guidelines for metastatic colorectal cancer: an Asian consensus
Cheng AL, et al. Clin Colorectal Cancer 2014 Sep;13(3):145-55
American BRCA Outcomes and Utilization of Testing (ABOUT) study: A pragmatic research model that incorporates personalized medicine/patient-centered outcomes in a real world setting
Armstrong J, et al. J Genet Couns 2014 Sep
Attitudes toward molecular testing for personalized cancer therapy
Yusuf RA, et al. Cancer 2014 Sep
Clinical practice guidelines for identification, screening and follow-up of individuals at high risk of primary cutaneous melanoma: a systematic review
Watts CG, et al. Br J Dermatol 2014 Sep
Colonoscopy screening compliance and outcomes in patients with Lynch Syndrome
Newton K, et al. Colorectal Dis 2014 Sep
Genomic profile of breast cancer: cost-effectiveness analysis from the Spanish National Healthcare System perspective
Segui MA, et al. Expert Rev Pharmacoecon Outcomes Res 2014 Sep:1-11
Organizing knowledge to enable personalization of medicine in cancer
Benjamin M Good et al. Genome Biology, August 27, 2014
Parent decision-making around the genetic testing of children for germline TP53 mutations
Alderfer MA, et al. Cancer 2014 Sep
Rethinking biobanking and translational medicine in the Netherlands: how the research process stands to matter for patient care
Conor MW Douglas and Philip Scheltens. EJHG September 17, 2014
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
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
Urine testing for HPV.
Henry C Kitchener. BMJ 2014; 349
Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data
van der Ploeg CP, et al. J Cyst Fibros 2014 Sep
Noninvasive buccal swab antigen sample and molecular testing provides extended antigen typing for patients with hemoglobinopathies
Rampersad A, et al. J Pediatr 2014 Sep
Clinical pharmacogenetics implementation consortium guidelines for CYP2C9 and HLA-B genotypes and phenytoin dosing
K E Caudle et al. Clin Pharmacol Ther September 17, 2014
Antenatal testing for cystic fibrosis in Cuba, 1988-2011
Collazo T, et al. MEDICC Rev 2014 Jul-2014 Oct;16(3-4):18-21
Evaluation of patient education materials: The example of circulating cell free DNA testing for aneuploidy
Kloza EM, et al. J Genet Couns 2014 Sep
Female cystic fibrosis mutation carriers and assisted reproductive technology: does carrier status affect reproductive outcomes?
VanWort TA, et al. Fertil Steril 2014 Sep
Prenatal diagnosis: do prospective parents have the right not to know?
Sierawska AK Med Health Care Philos 2014 Sep
Honing prenatal screening tests, by Chris Anderson, GEN, Sep 11
The contribution of genetic variants to disease depends on the ruler
Witte J, et al. Nature Reviews Genetics (2014) Sep 16
Radical new DNA sequencer finally gets into researchers' hands, by Antonio Regalado, Sep 17
NIH Research Matters: Expanding our understanding of genomics, Sep 15
NIH Research Matters: Genetics of the 2014 Ebola Outbreak, Sep 15
Next-gen sequencing: Expanded genetic testing in the real world, Medscape, Sep 15 [by free subscription only]
A premature call for mass cancer screening in women, The New York Times, Sep 14
Could genetics hold the answer to curing autism? By NPR/TED Staff, Sep 12
The value and limitations of big data on the human genome: probing function, by Dr Chris Rands, PHG Foundation, Sep 12
Genetic testing For BRCA is a personal decision, by Elaine Shattner, Forbes, Sep 11
The technology, medicine and ethics of the fast changing field of genetic counseling, by Joe Linstroth, WKAR, Sep 11
Unknown unknowns: Is there a selection bias against null results? Wellcome Trust, Sep 11
How much of your genome is functional? By Felicity Davies, PLOS Biologue, Sep 2
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
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.
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