Genomics & Health Impact Update
Volume 31 Number 16 October 24 - 31, 2013About the Update
Contents of the week
Genomics Forum at the APHA Annual Meeting November 2-6, Boston MA
Genetics and Primary Care Institute: Genetics in Your Practice: Genetic Red Flags in Well-Checks, November 14, 2013, Webinar
Mutational landscape and significance across 12 major cancer types.
Kandoth C, et al. Nature. 2013 Oct 17;502(7471):333-9.
Scientists identify genetic errors in 12 major cancer types, Medical News Today, Oct 18
Nature Magazine: Miniwebsite focused on pan-cancer analysis: from the TCGA initiative, Oct 2013
Different cancers can share genetic signatures, by Dr. Francis Collins, NIH Director, Oct 22
A new age of cancer classification and treatment, by Oliver Childs, Cancer Research UK, Oct 15
Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing.
Garrett M Frampton, et al. Nature Biotechnology, October 20
Criteria for the use of omics-based predictors in clinical trials.
Lisa M. McShane e al. Nature, October 17
The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation
Valentini A, et al. Breast Cancer Res Treat 2013 Oct
The sex hormone system in carriers of BRCA1/2 mutations: a case-control study
Widschwendter M, et al. Lancet Oncology 2013 Oct 17
Female hormones key to breast and ovarian cancer in BRCA gene carriers, Medical Xpress, Oct 16
Can I access my personal genome? The current legal position in the UK
Kaye J, et al. Med Law Rev 2013 Oct
Empirical research on the ethics of genomic research
Middleton A, et al. Am J Med Genet A 2013 Aug;161A(8):2099-101
Risk, reward, and the double-edged sword: Perspectives on pharmacogenetic research and clinical testing among Alaska native people
Shaw JL, et al. Am J Public Health 2013 Oct
Opportunities to improve recruitment into medical genetics residency programs: survey results of program directors and medical genetics residents
Cichon M & Feldman GL Genet Med 2013 Oct
Primary Immune Deficiency Treatment Consortium (PIDTC) report
Griffith LM, et al. J Allergy Clin Immunol 2013 Oct
Mutations in the EGFR pathway clinical utility and testing strategies, by Honey V. Reddi, Clinical Laboratory News, October 2013
Criteria for the use of omics-based predictors in clinical trials
McShane L, et al. Nature 2013 Oct 16
Criteria for the use of omics-based predictors in clinical trials: explanation and elaboration
McShane L, et al. BMC Medicine 2013 , 11:220
Familial risk-colorectal cancer: ESMO clinical practice guidelines.
Balmaña J, et al. Ann Oncol. 2013 Oct;24 Suppl 6:vi73-vi80.
Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline update
Wolff A, et al. JCO 2013 Oct 7
Updated guidelines for HER2 testing of breast cancer, Medscape, Oct 15 [by free subscription only]
Developmental and behavioral pediatricians' attitudes toward screening for fragile X
Acharya K & Schindler A Am J Intellect Dev Disabil 2013 Jul;118(4):284-93
Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis
Pfeil J, et al. Orphanet J Rare Dis 2013 Oct;8(1):167
Universal newborn screening for haemoglobinopathies in Guadeloupe (French West Indies): A 27-year experience
Saint-Martin C, et al. J Med Screen 2013 Oct
Clinical implementation of germline cancer pharmacogenetic variants during the next-generation sequencing era
Gillis NK, et al. Clin Pharmacol Ther 2013 Oct
The Coriell personalized medicine collaborative pharmacogenomics appraisal, evidence scoring and interpretation system
Gharani N, et al. Genome Med 2013 Oct;5(10):93
The quality of economic studies of cancer pharmacogenomics: a quantitative appraisal of the evidence
Yang M, et al. Expert Rev Pharmacoecon Outcomes Res 2013 Oct;13(5):597-611
Using genes to guide prescriptions, from the National Institute of General Medical Sciences, Oct 2013
Ten years of experience in molecular prenatal diagnosis and carrier testing for spinal muscular atrophy among families from Serbia
Miskovic M, et al. Int J Gynaecol Obstet 2013 Oct
Education influences the role of genetics in myopia
Verhoeven VJ, et al. Eur J Epidemiol 2013 Oct
Genetic and acute CPEB1 depletion ameliorate fragile X pathophysiology.
Tsuyoshi Udagawa et al. Nature Medicine, Oct 20
The genomic psychiatry cohort: partners in discovery
Pato MT, et al. Am J Med Genet B Neuropsychiatr Genet 2013 Jun;162B(4):306-12
Biomedical research, a tool to address the health issues that affect African populations
Peprah E & Wonkam A Global Health 2013 Oct;9(1):50
A Mendelian code for complex disease.
Louisa Flintoft. Nature Reviews Genetics Oct 18
It's not just the genes, by Eric E. Schadt, The Huffington Blog Post, Oct 24
The genomics landscape- welcome fiscal year 2014! - or not? Eric Green, Director, National Human Genome Institute, Oct 21
The Genomic Oracle: If your DNA is sequenced at birth, how would if affect your life? A new project aims to find out, by Carl Zimmer, Slate, Oct 21
5 ways technology is changing personalized medicine, Thomas Heydeler. Bio IT World, Oct 18
ATHENA: The Analysis Tool for Heritable and Environmental Network Associations
Holzinger E, et al. Bioinformatics 2013 Oct 21
eXtasy: variant prioritization by genomic data fusion
Sifrim A, et al. Nat Methods. 2013 Sep 29
New software traces origins of genetic disorders 20 times more accurately, EurekAlert, Oct 23
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