Genomics & Health Impact Update
Volume 32 Number 21 May 29 - June 5, 2014About the Update
Genomic medicine gets personal with new online course, Georgetown University, May 23
European cystic fibrosis society standards of care: Best practice guidelines
Smyth AR, et al. J Cyst Fibros 2014 May;13S1:S23-S42
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
Mohammed Uddin et al. Nature Genetics, May 25, 2014
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
Mina ED, et al. Eur J Hum Genet 2014 May
Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts.
Bureau A, et al. Genetics. 2014 May 2.
Sick Kids scientists figure out formula for predicting autism, Lee Marshall, The Globe and Mail, May 25
Accuracy of recall of information about a cancer-predisposing BRCA1/2 gene mutation among patients and relatives.
Chris Jacobs, et al. Eur J Hum Genet, May 21, 2014
Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations.
Christine Garcia et al. Genetics in Medicine, May 22, 2014
KRAS mutations and M2PK upregulation in stool samples from individuals with positive fecal occult blood tests screened for colorectal cancer
Battaglia P, et al. Tumori 2014 Mar-2014 Apr;100(2):122-7
Multi-marker solid tumor panels using next-generation sequencing to direct molecularly targeted therapies
Michael Marrone, Kelly K Filipski, Elizabeth M Gillanders, Sheri D Schully, Andrew N Freedman PLoS Currents Evidence on Genomic Tests 2014 May 27
NCCN increases the emphasis on genetic/familial high-risk assessment in colorectal cancer.
Hampel H. J Natl Compr Canc Netw. 2014 May;12(5 Suppl):829-31.
Predictive and prognostic value of the 21-gene recurrence score in hormone receptor-positive, node-positive breast cancer
Brufsky AM Am J Clin Oncol 2014 May
Risk estimations and treatment decisions in early stage breast cancer: agreement among oncologists and the impact of the 70-gene signature
Drukker CA, et al. Eur J Cancer 2014 Apr;50(6):1045-54
Therapy: This time it's personal
Gravitz L Nature 509, S52-S54 2014 May 29
Gene-lifestyle interaction and type 2 diabetes: The EPIC InterAct case-cohort study.
Langenberg C, et al. PLoS Med. 2014 May 20;11(5):e1001647.
Obesity outweighs genetics in type 2 diabetes risk, PHG Foundation, May 22
Impact of point-of-care testing for CYP2C19 on platelet inhibition in patients with acute coronary syndrome and early dual antiplatelet therapy in the emergency setting
Stimpfle F, et al. Thromb Res 2014 May
Poly-omic prediction of complex traits: OmicKriging.
Heather E. Wheeler et al. Genetic Epidemiology May 2014
Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases
Gavin Hudson et al. PLoS Genetics, May 2014
Risk stratification for sudden cardiac death: current status and challenges for the future.
Wellens HJ Eur Heart J. 2014 May 5.
Genetic test for heart disease risk rolled out in UK, BBC News, May 27
Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing
Yu JH, et al. Am J Med Genet A 2014 May
ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues
Dondorp W, et al. Hum Reprod 2014 May
Public preferences for the return of research results in genetic research: a conjoint analysis
Murphy Bollinger J, et al. Genet Med 2014 May
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 May 7. pii: S0002-9297(14)00181-5.
Committee members suggest guidelines for returning sequencing results to research participants, Genome Web, May 21 [by free subscription only]
The Genetic Information Nondiscrimination Act: a federal law that protects individuals from genetic discrimination in health insurance and employment, Information from Genetic Alliance
Anniversary of the Genetic Information Nondiscrimination Act, Council for Responsible Genetics, May 21, 2014
Familial cancer among consecutive uterine cancer patients in Sweden
Tzortzatos G, et al. Hered Cancer Clin Pract 2014;12(1):14
Familial risk of epilepsy: a population-based study
Peljto AL, et al. Brain 2014 Mar;137(Pt 3):795-805
Family history of hypertension and the risk of overweight in Japanese children: Results from the Toyama birth cohort study
Liu J, et al. J Epidemiol 2014 May
Modest familial risks for multiple sclerosis: a registry-based study of the population of Sweden
Westerlind H, et al. Brain 2014 Mar;137(Pt 3):770-8
Predictive factors of diabetic complications: a possible link between family history of diabetes and diabetic retinopathy
Maghbooli Z, et al. J Diabetes Metab Disord 2014;13:55
Screening family history key to saving young from diseases, Zee News, May 22
The placenta harbors a unique microbiome.
Kjersti Aagaard et al. Science Translational Medicine, May 21, 2014
Bacteria found in healthy placentas. Microbial flora similar to that in the mouth may play a role in preventing preterm births, Katia Moskvitch, Nature News, May 21
Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For consideration of expanded newborn screening in Hong Kong.
Lee HH, et al. J Med Screen. 2014 May 6.
Funding decisions for newborn screening: a comparative review of 22 decision processes in Europe
Fischer KE & Rogowski WH Int J Environ Res Public Health 2014;11(5):5403-30
Pharmacogenetic biomarkers for predicting drug response
Bank PC, et al. Expert Rev Mol Diagn 2014 May:1-13
Measuring informed choice in population-based reproductive genetic screening: a systematic review
Ames AG, et al. Eur J Hum Genet 2014 May 21
A European look at the changing landscape of prenatal testing, by Allison Proffitt, BioIT World, May 21
A draft map of the human proteome
Kim MS, et al. Nature 509, 575-581 2014 May 29
Mass-spectrometry-based draft of the human proteome
Wilhelm M,et al. Nature 509, 582-587 2014 May 29
Bioinformatics: Big data versus the big C
Savage N Nature 509, S66-S67 2014 May 29
Finding the missing link for big biomedical data.
Griffin M. Weber et al. JAMA, May 22, 2014
Large-scale genomics unveils the genetic architecture of psychiatric disorders.
Jacob Gratten et al. Nature Neuroscience June, 2014
More bang for your byte.
Scientific Data 1, editorial, May 27, 2014
Whole-genome analyses of whole-brain data: working within an expanded search space
Sarah E Medland et al. Nature NeuroScience, May 27, 2014
Why is personalized medicine relevant to public health?
Boccia S Eur J Public Health 2014 Jun;24(3):349-50
Inequities may widen for inherited cardiovascular disease, PHG Foundation, May 29
"DNA" as a cultural icon, Ewan’s Blog, May 27
First drug for muscular dystrophy approved in Europe, by Philippa Brice, PHG Foundation, May 26
New UK centre for arthritis genomics research, PHG Foundation, May 22
Obesity outweighs genetics in type 2 diabetes risk, PHG Foundation, May 22
New standards for genetics and genomics in clinical practice in the UK, National Genetics and Genomics Education Center, May 20, 201
CDC authors are indicated in bold
Translational research is a key to nongeneticist physicians' genomics education
Feero G, Manolio T, Khoury M Genetics in Medicine (2014) May 29
Cryptosporidium spp., Giardia duodenalis, Enterocytozoon bieneusi and Other Intestinal Parasites in Young Children in Lobata Province, Democratic Republic of São Tomé and Principe.
Lobo ML, Augusto J, Antunes F, Ceita J, Xiao L, Codices V, Matos O. PLoS One. 2014 May 20;9(5):e97708.
Genetic evidence of importation of drug-resistant Plasmodium falciparum to Guatemala from the Democratic Republic of the Congo. Jaymin C. Patel , Steve M. Taylor, Patricia C. Juliao, Christian M. Parobek, Mark Janko, Luis Demetrio Gonzalez, Lucia Ortiz, Norma Padilla, Antoinette K. Tshefu, Michael Emch, Venkatachalam Udhayakumar, Kim Lindblade, and Steven R. Meshnick Emerg Infect Dis. 2014 Jun
The origin and diversification of the merozoite surface protein 3 (msp3) multi-gene family in Plasmodium vivax and related parasites.
Rice BL, Acosta MM, Andreína Pacheco M, Carlton JM, Barnwell JW, Escalante AA. Mol Phylogenet Evol. 2014 May 23. pii: S1055-7903(14)00178-X.
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