Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

Por 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, F. Lucy Raymond
Publicado em 2022-07-01