A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNA

Lianting Fu, Jieyi Chen, Da Lian, Siyuan Du, Dongya Wu, Chentao Yang, Ziyi Wang, Hongyi Ma, Zhengtong Li, Nicole J. Lake, Xiangyu Yang, Yongyong Shi, Guojie Zhang, Kaiyue Ma, Yafei Mao · 2026

Read A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNA by Lianting Fu, Jieyi Chen, Da Lian, Siyuan Du, Dongya Wu, Chentao Yang, Ziyi Wang, Hongyi Ma, Zhengtong Li, Nicole J. Lake, Xiangyu Yang, Yongyong Shi, Guojie Zhang, Kaiyue Ma, Yafei Mao (2026) 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-13179385.txt.

Description

Lianting Fu leads a team of fifteen authors in 2026 in launching a pangenome project to catalog the pieces of mitochondrial DNA lodged inside the human nuclear genome. These fragments, called NUMTs, are fossils of an ongoing transfer between genomes, and they matter for disease and for reading genome organization.

Using long-read data and a pangenome graph, the team more than doubled detection sensitivity over older methods. Their map lists hundreds of fixed insertions and hundreds more that vary between people, plus loci that differ by ancestry group. A reference this complete helps geneticists stop mistaking these fragments for real mitochondrial mutations.

Catalog record

CREATORLianting Fu, Jieyi Chen, Da Lian, Siyuan Du, Dongya Wu, Chentao Yang, Ziyi Wang, Hongyi Ma, Zhengtong Li, Nicole J. Lake, Xiangyu Yang, Yongyong Shi, Guojie Zhang, Kaiyue Ma, Yafei Mao
YEAR2026
COLLECTIONPAPERS
FORMATTXT
FILE SIZE68 KB
VERSION1.0
LICENSECC BY 4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/articles/PMC13179385

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