Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood
Publication: HGG Advances
Courtney E. French, Helen Dolling, Karyn Mégy, Alba Sanchis-Juan, Ajay Kumar, Isabelle Delon, Matthew Wakeling, Lucy Mallin, Shruti, Agrawal, Topun Austin, Florence Walston, Soo-Mi Park, Alasdair, Parker, Chinthika Piyasena, Kimberley Bradbury, Sian Ellard, David H.Rowitch, LucyRaymond
24 May 2022
Summary
More than a third of severely sick babies referred for rapid whole genome sequencing received a vital genetic diagnosis. Results from the latest Cambridge genomic study supported by NIHR BRC: Cambridge and NIHR BioResource, confirm rapid whole genome sequencing (WGS) as an effective early test to aid diagnosis in severely ill children. Read the full story.
