Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

  1. Cacheiro, P.
  2. Ordóñez-Ugalde, A.
  3. Quintáns, B.
  4. Piñeiro-Hermida, S.
  5. Amigo, J.
  6. García-Murias, M.
  7. Pascual-Pascual, S.I.
  8. Grandas, F.
  9. Arpa, J.
  10. Carracedo, A.
  11. Sobrido, M.J.
Journal:
Molecular Diagnosis and Therapy

ISSN: 1179-2000 1177-1062

Year of publication: 2017

Volume: 21

Issue: 3

Pages: 303-313

Type: Article

DOI: 10.1007/S40291-017-0268-X GOOGLE SCHOLAR