Genomics & Health Impact Update
Volume 32 Number 24 June 18-26, 2014About the Update
Human Genome Analysis: Genetic Analysis of Multifactorial Diseases
July 23-29 ~ Cambridge, UK
Why we can't wait: 2014 Conference to eliminate health disparities in genomic medicine- the role of policy
September 4-5 ~ Washington, DC
2nd International Conference on Genomics & Pharmacogenomics
September 8-10 ~ Raleigh, NC
Genetic basis of congenital cardiovascular malformations.
Lalani SR, et al. Eur J Med Genet. 2014 Apr 30. pii: S1769-7212(14)00095-0.
An internal performance assessment of CancerGene Connect: An electronic tool to streamline, measure and improve the genetic counseling process
Pritzlaff M, et al. J Genet Couns 2014 Jun
Consequences of universal MSI/IHC in screening endometrial cancer patients for Lynch syndrome
Batte BA, et al. Gynecol Oncol 2014 Jun
Differences in BRCA counseling and testing practices based on ordering provider type.
Cragun D, et al. Genet Med. 2014 Jun 12.
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer
Wang Y, et al. Nat Genet. 2014 Jun 1.
BRCA2 gene mutations linked to lung cancer risk in smokers, PHG Foundation, Jun 12
Sample features associated with success rates in population-based EGFR mutation testing
Shiau CJ, et al. J Thorac Oncol 2014 Jul;9(7):947-56
The future of cancer genomics, by Dan Koboldt, Mass Genomics, Jun 12
USPSTF, ASCO issue more guidance on genetic testing based on family history, by Surabhi Dangi-Garimella, PhD, OncLive, Jun 11
Atherosclerosis progression in patients with autosomal dominant hypercholesterolemia in clinical practice
Jarauta E, et al. Journal of Clinical Lipidology 2014 Jun 13
Associations of I148M variant in PNPLA3 gene with plasma ALT levels during 2-year follow-up in normal weight and overweight children: the PANIC Study
Viitasalo A, et al. Pediatric Obesity 2014 Jun 11
Overweight + gene mutation = elevated liver values in children, EurekAlert, Jun 17
Genetic testing for the susceptibility to alcohol dependence: Interest and concerns in an African American population
Scott DM, et al. Genet Test Mol Biomarkers 2014 Jun
Information-seeking and sharing behavior following genomic testing for diabetes risk
Mills R, et al. J Genet Couns 2014 Jun
Psychiatrists' views of the genetic bases of mental disorders and behavioral traits and their use of genetic tests
Klitzman R, et al. J Nerv Ment Dis 2014 Jun
Willingness to pay for genetic testing for inherited retinal disease
Tubeuf S, et al. Eur J Hum Genet 2014 Jun
Accepting adoption's uncertainty: The limited ethics of pre-adoption genetic testing
Leighton KJ J Bioeth Inq 2014 Jun
Models of consent to return of incidental findings in genomic research
Appelbaum PS, et al. Hastings Cent Rep 2014 Jun
Return of genomic results to research participants: The floor, the ceiling, and the choices in between
Jarvik G, et al. Am J Hum Genet. 2014 Jun 5;94(6):818-26.
Should research subjects be given their genetic test results? By Margaret Lutze, Liberty Voice, Jun 12
Property rights and the human body, by Jennifer K. Wagner, Genomic Law Report, Jun 11
Does family medical history matter to a health nut? By Lisa Miller, Science of Us, Jun 10
The promise of whole-exome sequencing in medical genetics
Rabbani B, et al. Journal of Human Genetics (2014) 59, 5–15;
The role of the genetic counsellor: a systematic review of research evidence
Skirton H, et al. Eur J Hum Genet 2014 Jun
Clinical Sequencing Exploratory Research (CSER), NHGRI, Jun 2
A barcode of organellar genome polymorphisms identifies the geographic origin of Plasmodium falciparum strains.
Preston MD, et al. Nat Commun. 2014 Jun 13;5:4052.
Discovery of genetic 'barcode' for malaria could help contain outbreaks, Medical News Today, Jun 17
The genomics of tuberculosis, by Christine McCartney, Public Health Matters Blog, Jun 16
A genetic basis for infectious mononucleosis: Evidence from a family study of hospitalized cases in Denmark
Rostgaard K, et al. Clin Infect Dis. (2014) 58 (12): 1684-1689.
Editorial commentary: Genetics and infectious mononucleosis
Balfour Jr HH Clin Infect Dis. (2014) 58 (12): 1690-1691.
Point-of-care genetic tests for infectious disease: Legal considerations
Thorogood A, et al. Current Pharmacogenomics and Personalized Medicine Volume 12, 4 Issues, 2014
Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011
Al Hosani H, et al. East Mediterr Health J 2014;20(1):17-23
New test added to newborn screening in Illinois, by John Layyton, The Metro Independent, Jun 16
Genotype-guided vs clinical dosing of warfarin and its analogues
Stergiopoulos K, et al. JAMA Intern Med. June 16, 2014
The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update
Ramsey LB, et al. Clin Pharmacol Ther 2014 Jun
ESHRE task force on ethics and Law22: Preimplantation genetic diagnosis
De Wert G, et al. Hum Reprod 2014 Jun
Genetic counseling and prenatal diagnosis for hereditary hearing loss in high-risk families
Yin A, et al. Int J Pediatr Otorhinolaryngol 2014 Jun
Non-invasive prenatal testing: Ethics and policy considerations
Vanstone M, et al. J Obstet Gynaecol Can 2014 Jun;36(6):515-26
Looking for something new? 5 emerging careers to watch, by Sienna Beard, Wall Street Cheat Sheet, Jun 17
Neuroscience's new toolbox, by Stephen S. Hall, MIT Technology Review, Jun 17
Balancing public access and security for genomic cancer data, PHG Foundation, Jun 16
NIH to fund genomics studies linking HLA and KIR regions with diseases, Genome Web, Jun 12
The search for epistasis, by Andrew Brown, Wellcome Trust Sanger Institute, Jun 12
Who owns your genetic data? Hint: It's probably not you, by Meredith Salisbury, The Huffington Post Blog Post, Jun 12
Whole genome sequencing: Savile Row or Marks & Spencer? By Dr. Ron Zimmern, PHG Foundation, Jun 11
How should we be thinking about genetic studies? By Kayt Sukel, The Dana Foundation, Jun 2014
An annotated online bioinformatics / computational biology curriculum, by Stephen Turner, R-bloggers, Jun 13
Human Diseases: Genomes Management Application (GEM.app), University of Miami, Miller School of Medicine
CDC authors are indicated in bold
Rapid spread and diversification of respiratory syncytial virus genotype ON1, Kenya
Agoti CN, Otieno JR, Gitahi CW, Cane PA, Nokes DJ. Emerg Infect Dis. 2014 Jun;20(6):950-9.
A rapid immunization strategy with a live-attenuated tetravalent dengue vaccine elicits protective neutralizing antibody responses in non-human primates.
Ambuel Y, Young G, Brewoo JN, Paykel J, Weisgrau KL, Rakasz EG, Haller AA, Royals M, Huang CY, Capuano S, Stinchcomb DT, Partidos CD, Osorio JE. Front Immunol. 2014 Jun 5;5:263.
Small interfering RNA inhibition of andes virus replication.
Chiang CF, Albariňo CG, Lo MK, Spiropoulou CF. PLoS One. 2014 Jun 12;9(6):e99764.
Heterogeneity of the internal transcribed spacer region in Leishmania tropica isolates from southern Iran.
Ghatee MA, Sharifi I, Kuhls K, Kanannejad Z, Harandi MF, de Almeida ME, Hatam G, Mirhendi H. Exp Parasitol. 2014 Jun 13. pii: S0014-4894(14)00141-6.
Draft Genome Sequences of Nine Enteropathogenic Escherichia coli Strains from Kenya.
Hazen TH, Humphrys MS, Ochieng JB, Parsons M, Bopp CA, O'Reilly CE, Mintz E, Rasko DA. Genome Announc. 2014 Jun 12;2(3). pii: e00582-14.
Genetic evidence of drug-resistant malarial strain from the Democratic Republic of the Congo imported to Guatemala
Patel JC, Taylor SM, Juliao PC, Parobek CM, Janko M, Gonzalez LD, Ortiz L, Padilla N, Tshefu AK, Emch M, Udhayakumar V, Lindblade K, Meshnick SR. Emerg Infect Dis. 2014 Jun;20(6):932-40.
Strategies, actions, and outcomes of pilot state programs in public health genomics, 2003-2008.
St Pierre J, Bach J, Duquette D, Oehlke K, Nystrom R, Silvey K, Zlot A, Giles R, Johnson J, Anders HM, Gwinn M, Bowen S, Khoury MJ. Prev Chronic Dis. 2014 Jun 12;11:E97.
Dense Genotyping of Immune-Related Loci Identifies Variants Associated with Clearance of HPV among HIV-Positive Women in the HIV Epidemiology Research Study (HERS).
Sudenga SL, Wiener HW, King CC, Rompalo AM, Cu-Uvin S, Klein RS, Shah KV, Sobel JD, Jamieson DJ, Shrestha S. PLoS One. 2014 Jun 11;9(6):e99109.
Diversity of the murine antibody response targeting influenza A(H1N1pdm09) hemagglutinin.
Wilson JR, Tzeng WP, Spesock A, Music N, Guo Z, Barrington R, Stevens J, Donis RO, Katz JM, York IA. Virology. 2014 Jun;458-459:114-24.
Evolutionary Genetics of Genotype H1 Measles Viruses in China from 1993-2012.
Xu S, Zhang Y, Rivailler P, Wang H, Ji Y, Zhen Z, Mao N, Li C, Bellini WJ, Xu W, Rota P. J Gen Virol. 2014 Jun 9. pii: vir.0.066746-0.
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