All Stories

  1. Genetic test for acute leukemias
  2. Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing
  3. NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results
  4. CoNVaDING: Single Exon Variation Detection in Targeted NGS Data
  5. Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly
  6. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
  7. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
  8. Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics
  9. Successful Noninvasive Trisomy 18 Detection Using Single Molecule Sequencing