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Received — 17 February 2026 ⏭ Favourites

npj Digital Medicine
Empowering genetic discoveries and cardiovascular risk assessment by predicting electrocardiograms from genotype Siying Lin · Yuedong Yang · Huiying Zhao
npj Digital Medicine, Published online: 17 February 2026; doi:10.1038/s41746-026-02438-3Empowering genetic discoveries and cardiovascular risk assessment by predicting electrocardiograms from genotype
17 February 2026 at 08:00

Empowering genetic discoveries and cardiovascular risk assessment by predicting electrocardiograms from genotype

npj Digital Medicine

By: Siying Lin · Yuedong Yang · Huiying Zhao

17 February 2026 at 08:00

npj Digital Medicine, Published online: 17 February 2026; doi:10.1038/s41746-026-02438-3

Empowering genetic discoveries and cardiovascular risk assessment by predicting electrocardiograms from genotype

Received — 27 February 2025 ⏭ Favourites

Nature - Issue - nature.com science feeds
Rare disease gene association discovery in the 100,000 Genomes Project Valentina Cipriani · Letizia Vestito · Emma F. Magavern · Julius O. B. Jacobsen · Gavin Arno · Elijah R. Behr · Katherine A. Benson · Marta Bertoli · Detlef Bockenhauer · Michael R. Bowl · Kate Burley · Li F. Chan · Patrick Chinnery · Peter J. Conlon · Marcos A. Costa · Alice E. Davidson · Sally J. Dawson · Elhussein A. E. Elhassan · Sarah E. Flanagan · Marta Futema · Daniel P. Gale · Sonia García-Ruiz · Cecilia Gonzalez Corcia · Helen R. Griffin · Sophie Hambleton · Amy R. Hicks · Henry Houlden · Richard S. Houlston · Sarah A. Howles · Robert Kleta · Iris Lekkerkerker · Siying Lin · Petra Liskova · Hannah H. Mitchison · Heba Morsy · Andrew D. Mumford · William G. Newman · Ruxandra Neatu · Edel A. O’Toole · Albert C. M. Ong · Alistair T. Pagnamenta · Shamima Rahman · Neil Rajan · Peter N. Robinson · Mina Ryten · Omid Sadeghi-Alavijeh · John A. Sayer · Claire L. Shovlin · Jenny C. Taylor · Omri Teltsh · Ian Tomlinson · Arianna Tucci · Clare Turnbull · Albertien M. van Eerde · James S. Ware · Laura M. Watts · Andrew R. Webster · Sarah K. Westbury · Sean L. Zheng
Nature, Published online: 26 February 2025; doi:10.1038/s41586-025-08623-wA rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.
26 February 2025 at 08:00

Rare disease gene association discovery in the 100,000 Genomes Project

Nature - Issue - nature.com science feeds

By: Valentina Cipriani · Letizia Vestito · Emma F. Magavern · Julius O. B. Jacobsen · Gavin Arno · Elijah R. Behr · Katherine A. Benson · Marta Bertoli · Detlef Bockenhauer · Michael R. Bowl · Kate Burley · Li F. Chan · Patrick Chinnery · Peter J. Conlon · Marcos A. Costa · Alice E. Davidson · Sally J. Dawson · Elhussein A. E. Elhassan · Sarah E. Flanagan · Marta Futema · Daniel P. Gale · Sonia García-Ruiz · Cecilia Gonzalez Corcia · Helen R. Griffin · Sophie Hambleton · Amy R. Hicks · Henry Houlden · Richard S. Houlston · Sarah A. Howles · Robert Kleta · Iris Lekkerkerker · Siying Lin · Petra Liskova · Hannah H. Mitchison · Heba Morsy · Andrew D. Mumford · William G. Newman · Ruxandra Neatu · Edel A. O’Toole · Albert C. M. Ong · Alistair T. Pagnamenta · Shamima Rahman · Neil Rajan · Peter N. Robinson · Mina Ryten · Omid Sadeghi-Alavijeh · John A. Sayer · Claire L. Shovlin · Jenny C. Taylor · Omri Teltsh · Ian Tomlinson · Arianna Tucci · Clare Turnbull · Albertien M. van Eerde · James S. Ware · Laura M. Watts · Andrew R. Webster · Sarah K. Westbury · Sean L. Zheng

26 February 2025 at 08:00

Nature, Published online: 26 February 2025; doi:10.1038/s41586-025-08623-w

A rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.