19 March 2007
What genome-wide association studies can do for medicine. Christensen K, Murray JC (2007) N Engl J Med. 356(11):1094-7. Perspective article explaining the identification of genetic variants associated with moderate disease risk and the need for new approaches to collect sufficient samples to permit wider studies in future (PubMed).
Structural variation in the human genome. Lupski JR (2007) N Engl J Med. 356(11): 1169-71. Clinical implications of basic research summary on the known and potential effects of copy number and other forms of structural variation (PubMed).
A future for medical genetics: lessons from Catch 22. Evans JP (2007) Genet Med. 9(1):1-3. Editorial on the necessity for medical geneticists to make clear the importance of their speciality – lest they become the only clinicians to sit out the genetic revolution (PubMed).
The case for dedicated sickle cell centres. Serjeant G (2007) BMJ 334(7591): 477. Personal view from the chairman of the Jamaica sickle cell trust.
Management of breast cancer in women with BRCA gene mutation. Kell MR, Burke JP (2007) BMJ 334(7591):437-8. Editorial on the safety of breast conserving surgery in women with familial breast cancer syndrome(PubMed).
Strategies for silencing human disease using RNA interference. Kim DH, Rossi JJ (2007) Nat Rev Genet. 8(3):173-84. Review on the potential and pitfalls of therapeutic RNAi based on recent findings (PubMed).
The evolution of epidemic influenza. Nelson MI, Holmes EC (2007) Nat Rev Genet. 8(3):196-205. Review on epidemiological evolution of human influenza virus proposing that a wider view of genomic diversity is required (PubMed).
The evolutionary significance of cis-regulatory mutations. Wray GA (2007) Nat Rev Genet. 8(3):206-16. Review of the relative contribution of coding sequence and cis-regulatory mutations to functionally significant change (PubMed).
100 years on: a century of genetics. Dunwell JM (2007) Nat Rev Genet. 8(3):231-5. Perspectives essay on the birth and enduring legacy of genetics (PubMed).
Beyond standardization: dynamic software infrastructures for systems biology. Swertz MA, Jansen RC (2007) Nat Rev Genet. 8(3):235-43. Opinion piece proposing key features for new software infrastructure to permit the high levels of complexity required by systems biology applications (PubMed).
HLA-DR15 Haplotype and Multiple Sclerosis: A HuGE Review. Schmidt H et al. (2007) Am J Epidemiol Feb 28; [Epub ahead of print]. Literature review and meta-anlysis of articles on the association between the DR15 haplotype and MS (PubMed).
Genetic contributions to Type 2 diabetes: recent insights. Sale MM, Rich SS (2007) Expert Rev Mol Diagn 7(2):207-17. Review of genetic factors associated with type 2 diabetes along with possible mechanisms of disease susceptibility and therapeutic opportunities (PubMed).
Genetics and epigenetics - nature's pen-and-pencil set. Gosden RG, Feinberg AP (2007) N Engl J Med. 356(7):731-3. Editorial accompanying research report on epigenetic transmission of disease due to uncorrected errors (PubMed).
A review of genetic causes of ischemic and hemorrhagic stroke. Tonk M, Haan J (2007) J Neurol Sci Feb 26; [Epub ahead of print]. Review on insights from rare monogenic forms of stroke that may be applied to the common, multifactorial forms (PubMed).
The Role of Genetics in the Provision of Essential Public Health Services. Wang G, Watts C (2007) Am J Public Health Feb 28; [Epub ahead of print]. Analysis of US state public health genetics programs and their impact (PubMed).
The effect of HapMap on cardiovascular research and clinical practice.
Skelding KA, Gerhard GS, Simari RD, Holmes DR Jr (2007). Nat Clin Pract Cardiovasc Med 2007 Mar;4(3):136-42. Review of the HapMap project and applications in cardiovascular research (PubMed).
Analysis of phenotype-genotype connection: the story of dissecting disease pathogenesis in genomic era in China, and beyond. Shen Y, Xu Q, Han Z, Liu H, Zhou GB (2007) Philos Trans R Soc Lond B Biol Sci Feb 27; [Epub ahead of print]. Discussion of how understanding the underlying genetic contributions to complex disease pathogenesis by genomic era research can lead to novel diagnostic and therapeutic strategies (PubMed).