Last Posted: Jun 09, 2017
- Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders
Raony G. C. C. L. Cardenas et al, PLOS Biology, June, 2017
- Why study rare genetic conditions?
N Rahman, TGMI blog post, June 2, 2017
- Painting a new picture of personalised medicine for diabetes.
McCarthy Mark I et al. Diabetologia 2017 May 60(5) 793-799
- Public-Private Partnerships in Cloud-Computing Services in the Context of Genomic Research.
Granados Moreno Palmira et al. Frontiers in medicine 2017 43
- A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Roy Noémi B A et al. British journal of haematology 2016 Oct 175(2) 318-330
- After four years, it took a geneticist a few hours to unravel a boys puzzling illness
A Bond, Stat News, May 16, 2017
- Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.
Zurynski Yvonne et al. Orphanet journal of rare diseases 2017 Apr 12(1) 68
- Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases.
Alzarka Bakri et al. Frontiers in pediatrics 2017 580
- Initiating an undiagnosed diseases program in the Western Australian public health system.
Baynam Gareth et al. Orphanet journal of rare diseases 2017 May 12(1) 83
- International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Boycott Kym M et al. American journal of human genetics 2017 May 100(5) 695-705
- International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
KM Boycott et al, AJHG, May 4, 2017
- Life with a Rare Genetic Disease: The Science, the Suffering and the Hope
M Angrist, New York Times, April 28, 2017
- When even genome sequencing does not provide a diagnosis.
Tech Review, April 2017
- Massive-scale genomic data sharing to improve rare disease diagnosis
D MacArthu8r VIDEO presentation, Scripps Institute, Future of Genomic Medicine 2017
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
BB Cummings et al, Sci Trans Med, April 19, 2017
- Searching for a diagnosis: a network of doctors tries to solve medical mysteries
A Gorman, Stat News, April 20, 2017