The genetic etiology by whole-exome sequencing (WES).
By Neha MathurAug 23 2023Reviewed by Lily Ramsey, LLM In a recent article published in BMC Medical Genomics, researchers recruited a cohort of 25 Chinese genodermatoses patients to examine the genetic etiology by whole-exome sequencing .
Researchers have identified over 1,000 monogenic skin disorders, which are highly clinically variable, with clinical symptoms ranging from a generalized phenotype to a predominantly acral blistering phenotype . Overall, there is an unmet need for a method that expedites the discovery of genetic variations to facilitate diagnoses in dermatology, including genodermatoses, which affect different parts of the skin in different ways, i.e., having high clinical heterogeneity.
Furthermore, the researchers used Sanger sequencing to confirm their results and perform prenatal diagnosis. WES accurately diagnosed nine known and nine novel variations in 16 of 25 genodermatoses patients. Of these, 12 variations had a genetic origin, and one even had a de novo origin. Around 48% of the 25 cases had positive family histories, so WES's diagnostic yield was likely higher than the traditional WES diagnostic rate .
Danmark Seneste Nyt, Danmark Overskrifter
Similar News:Du kan også læse nyheder, der ligner denne, som vi har indsamlet fra andre nyhedskilder.
Woman discovers she has been using public toilets 'wrong' her whole lifeThe 18-year-old only realised she'd been doing things differently to everyone else during a conversation with a friend
Læs mere »
'Cruel and calculated' Lucy Letby given whole life sentenceThe 'cruel, calculated' baby killer was sentenced at Manchester Crown Court today and has been told she will never be released from prison
Læs mere »
Lucy Letby is only the fourth British woman to receive a whole-life orderLucy Letby is one of only four women to be given the 'life means life' tariff by the British courts.
Læs mere »
The twisted killer women handed whole-life orders who will die behind barsLucy Letby has become the fourth woman in the UK to get a whole-life order after murdering seven babies and trying to kill six more.
Læs mere »
Lucy Letby is only the fourth British woman to receive a whole-life orderLetby is one of only four women to be given the 'life means life' tariff by the legal system.
Læs mere »