European Journal of Human Genetics - EJHG

https://t.co/ck7qyEBoNf

Dogs and humans have significant similarities in their genomes. Mutations in orthologous genes cause ataxia in both man and his “best friend”. This paper describes due to SLC12A6 mutations in a Malinois dog family, providing insight into pathogenesis.

(3/3) Amongst UK health professionals the preference was for panel testing for inherited cardiac diseases. The authors believe this is because it reduces identification of variants of uncertain significance. https://t.co/aU1uiGTDiK

(2/3) Here a discrete choice experimental design was used to see which type of testing was preferred by clinicians and why.

(1/3) and sequencing identify more pathogenic variants than gene panels for inherited cardiac disease, at the cost of increased identification of variants of uncertain significance. The optimal testing strategy is an open question.

Can genomics predict bleeding complications of treatment? This paper suggests variants in APOB increase the risk of bleeding side effects with . https://t.co/0kUtsCa524

(3/3) This paper suggests imprinting disorders may be substantially more common than is currently recognised https://t.co/N9K2gXlxpz

(2/3) In this paper the epidemiology of imprinting disorders is studied in Estonia. The overall prevalence is 1/17 132, most common is Prader-Willi syndrome .

(1/3) Estonia has a population of around 1.5 million people and 2 major referral centres for paediatrics. This provides an ideal setting for epidemiological studies of paediatric .

This paper describes a novel sphingolipidosis due to recessive DEGS1 mutations. https://t.co/nKLmNbK8C0

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey Article

What is the best genomic testing strategy for autoinflammatory disorders? This consensus European paper suggests a gene panel approach with standard presymptomatic testing protocols where needed. https://t.co/J9aiZoEf1C

Genome sequencing for unwell babies can improve diagnostic rates. But Australian do not all perceive positively and identify need for teamworking with to apply in paediatric .

https://t.co/DiRQsNBJXv