Focal Interest
Focal Interest

Genomic variations and chromosomal abnormalities

External reference: https://openalex.org/T11213

  1. DNA replication errors linked to small inverted triplications
    Analysis of cancer genomes reveals FEN1 drives formation of small inverted triplications through replication errors at nucleosome boundaries, with implications for structural variant mechanisms.
  2. Complex chromosome 6 inversions produced recombinant offspring
    Complex paracentric inversion of chromosome 6q with multiple sequential inversions generated recombinant chromosomes in offspring, challenging traditional reproductive risk assumptions.
  3. Mitotic repair pathway drives chromoanasynthesis
    Study reveals mitotic microhomology-mediated break-induced replication drives chromoanasynthesis, a complex chromosomal rearrangement mechanism in cancer and congenital disorders.