CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

Antzeko izenburuak

• CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
  nork: Yuan, Bo, et al.
  Argitaratua: (2020)
• An integrated Asian human SNV and indel benchmark established using multiple sequencing methods
  nork: Huang, Chuanfeng, et al.
  Argitaratua: (2020)
• Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
  nork: Dharmadhikari, Avinash V., et al.
  Argitaratua: (2019)
• Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
  nork: Avinash V. Dharmadhikari, et al.
  Argitaratua: (2019)
• The dynamic landscape of BRCA1 reversion mutations from indel to SNV in a patient with ovarian cancer treated with PARP-inhibitors and immunotherapy
  nork: Jacob, Saya L., et al.
  Argitaratua: (2020)