Last Posted: Oct 08, 2018
- The clinical code-breakers- DNA sequencing is helping clinicians to unravel the underpinnings of disease in individual patients.
M Eisenstein, Nature, October 8, 2018 - Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia.
Futema Marta et al. Atherosclerosis 2018 Oct 277457-463 - Exploring neurologists' perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines.
Hurlimann Thierry et al. BMC medical ethics 2018 Sep 19(1) 81 - Wellcome Sanger Institute at 25: how the genomic revolution is changing medicine
Wellcome Sanger, September 2018 - A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.
Hochstenbach Ron et al. European journal of medical genetics 2018 Sep - Advantages of whole-genome sequencing for identification of tumor etiology and clinically actionable genomic aberrations: lessons from the Australian Melanoma Genome Project.
Wilmott James S et al. Melanoma management 2017 Sep 4(3) 147-149 - Solving the genome puzzle: With advances in gene technology helping to diagnose very rare diseases, has the new era of personalised medicine finally arrived?
L Geddes, The Guardian, September 21, 2018 - Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era.
Calhoun Jeffrey D et al. Journal of neurogenetics 2018 Sep 1-18 - Use of whole genome sequencing to complement characterisation of a typhoid fever outbreak among a Marshallese community: Oklahoma, 2015.
Burnsed L J et al. Epidemiology and infection 2018 Sep 1-7 - Environmental transmission of Clostridioides difficile ribotype 027 at a long-term care facility; an outbreak investigation guided by whole genome sequencing.
Endres Bradley T et al. Infection control and hospital epidemiology 2018 Sep 1-8
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