Although the human reference genome is now 22 years old 10, fundamental limitations of the bacterial artificial chromosome (BAC) libraries on which it was built prevented its completion. Incomplete ...

Chromosomal heteromorphisms (CHMs) are currently largely disregarded in human genetic diagnostics. One exception is der(Y)t(Y;acro)(q12;p1?2), which has at least been mentioned in karyotypes and ...

Researchers from the University of Tennessee Health Science Center have made a foundational discovery about chromosome biology through their work on the first-ever human pangenome reference. Published ...

Abnormalities in the structure of chromosomes within someone’s genetic makeup are called structural chromosomal abnormalities. Robertsonian translocations are very rare structural chromosomal ...