Scientists complete first fully sequenced human diploid genome

human diploid genome complete sequencing Johns Hopkins NIST personalized medicine

An international research team led by scientists from Johns Hopkins University, the National Institute of Human Genome Research and the National Institute of Standards and Technology (NIST) announced that they have finally read the remaining 8 % of the human genome that was left unread by the original Human Genome Project. By reconstructing both maternal and paternal copies of each chromosome from the reference sample HG002, they produced the first complete diploid human genome, assembled letter‑by‑letter from telomere to telomere.

The findings were released in a package of twelve articles in the journals Cell and Cell Genomics. The researchers say the new reference will serve as a foundation for the next generation of personalized medicine, allowing clinicians to pinpoint disease‑causing mutations that are inherited from a single parent.

The work builds on the 2022 Telomere‑to‑Telomere (T2T) effort, which delivered a single‑copy (haploid) human genome. Separating the two parental copies proved a far more difficult computational problem, but the team succeeded by leveraging advances in sequencing technology and algorithms.

Entities

Adam Phillippy · HG002 sample · Johns Hopkins University · National Institute of Human Genome Research · National Institute of Standards and Technology

Claims

What the coverage asserts, and how well corroborated each claim is across sources.

[● 3 SOURCES] The authors claim the new diploid reference will underpin the next generation of personalized medicine. www.diariodealmeria.es · www.diariodecadiz.es · www.granadahoy.com
[● 3 SOURCES] The results were published in twelve articles in the journals Cell and Cell Genomics. www.diariodealmeria.es · www.diariodecadiz.es · www.granadahoy.com
[● 3 SOURCES] Separating the two parental chromosome copies in a diploid genome is a significantly harder computational problem than assembling a single haploid copy. www.diariodealmeria.es · www.diariodecadiz.es · www.granadahoy.com
[● 3 SOURCES] Researchers from Johns Hopkins University, the National Institute of Human Genome Research and NIST completed reading the remaining 8 % of the human genome. www.diariodealmeria.es · www.diariodecadiz.es · www.granadahoy.com
[● 3 SOURCES] The 2022 T2T project produced a single‑copy (haploid) human genome, not a diploid one. www.diariodealmeria.es · www.diariodecadiz.es · www.granadahoy.com
[● 3 SOURCES] The original Human Genome Project left about 8 % of the genome unread. www.diariodealmeria.es · www.diariodecadiz.es · www.granadahoy.com
[● 3 SOURCES] The sequenced genome was derived from sample HG002, a long‑standing reference donor used by the sequencing industry. www.diariodealmeria.es · www.diariodecadiz.es · www.granadahoy.com
[● 3 SOURCES] The team produced the first fully sequenced diploid human genome, reconstructing both maternal and paternal chromosome copies. www.diariodealmeria.es · www.diariodecadiz.es · www.granadahoy.com

Sources

El genoma humano, por fin completo: la ciencia descifra el 8% que faltaba, con las dos copias de nuestro 'libro de instrucciones' [www.diariodealmeria.es]

6 days ago

El genoma humano, por fin completo: la ciencia descifra el 8% que faltaba, con las dos copias de nuestro 'libro de instrucciones' [www.diariodecadiz.es]

6 days ago

El genoma humano, por fin completo: la ciencia descifra el 8% que faltaba, con las dos copias de nuestro 'libro de instrucciones' [www.eldiadecordoba.es]

6 days ago

El genoma humano, por fin completo: la ciencia descifra el 8% que faltaba, con las dos copias de nuestro 'libro de instrucciones' [www.granadahoy.com]

6 days ago