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

Ижил төстэй зүйлс

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