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

Ngā tūemi rite

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