Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes
Iftekhar A Showpnil, Maria E Hernandez Gonzalez, Swetha Ramadesikan, Mohammad Marhabaie, Allison Daley, Leeran Dublin-Ryan, Matthew T Pastore, Umamaheswaran Gurusamy, Jesse M Hunter, Brandon S Stone, Dennis W Bartholomew, Kandamurugu Manickam, Anthony R Miller, Richard K Wilson, Rolf W Stottmann, Da · 2024
Read Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes by Iftekhar A Showpnil, Maria E Hernandez Gonzalez, Swetha Ramadesikan, Mohammad Marhabaie, Allison Daley, Leeran Dublin-Ryan, Matthew T Pastore, Umamaheswaran Gurusamy, Jesse M Hunter, Brandon S Stone, Dennis W Bartholomew, Kandamurugu Manickam, Anthony R Miller, Richard K Wilson, Rolf W Stottmann, Da (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11655636.txt.
Description
Iftekhar Showpnil and co-authors show, in a 2024 study, how long-read genome sequencing can resolve complex rearrangements in rare genetic syndromes. Standard tests can spot that a DNA segment is lost or gained, but not how the pieces are joined. The team sequenced the full genomes of two patients, using reads long enough to span the breakpoints.
In the first patient, the reads revealed a reshaped chromosome 8: a 3.43 Mb duplication at one end linked to a deletion of 7.25 to 8.21 Mb at the other. In the second patient, they found a small moved segment plus four gaps of very different sizes. Both structures had been missed in their full form by earlier tests. The authors stress how varied such rearrangements can be. They argue that long reads should be used when standard tests hint at a rearrangement they cannot solve.
Catalog record
| CREATOR | Iftekhar A Showpnil, Maria E Hernandez Gonzalez, Swetha Ramadesikan, Mohammad Marhabaie, Allison Daley, Leeran Dublin-Ryan, Matthew T Pastore, Umamaheswaran Gurusamy, Jesse M Hunter, Brandon S Stone, Dennis W Bartholomew, Kandamurugu Manickam, Anthony R Miller, Richard K Wilson, Rolf W Stottmann, Da |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 59 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |