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Received — 9 January 2025 ⏭ Favourites

Heritable polygenic editing: the next frontier in genomic medicine?

✇Nature - Issue - nature.com science feeds
By: Peter M. Visscher · Christopher Gyngell · Loic Yengo · Julian Savulescu
8 January 2025 at 08:00

Nature, Published online: 08 January 2025; doi:10.1038/s41586-024-08300-4

We discuss the potential consequences and ethical concerns of polygenic genome editing of human embryos to alter specific variants associated with polygenic diseases, highlighting the possibility of reducing disease susceptibility while exacerbating health inequalities.

Functional evaluation and clinical classification of <i>BRCA2</i> variants

✇Nature - Issue - nature.com science feeds
By: Huaizhi Huang · Chunling Hu · Jie Na · Steven N. Hart · Rohan David Gnanaolivu · Mohamed Abozaid · Tara Rao · Yohannes A. Tecleab · Christine B. Ambrosone · Song Yao · Amy Trentham-Dietz · A. Heather Eliassen · Lauren R. Teras · Alpa Patel · Christopher A. Haiman · Esther M. John · Elena Martinez · James V. Lacey · Dale P. Sandler · Clarice R. Weinberg · Julie R. Palmer · Celine M. Vachon · Janet E. Olson · Kathryn E. Ruddy · Hoda Anton-Culver · Jeffrey N. Weitzel · Peter Kraft · Tina Pesaran · Paulo Cilas Morais Lyra · Rachid Karam · Siddhartha Yadav · Katherine L. Nathanson · Susan M. Domchek · Miguel de la Hoya · Mark Robson · Miika Mehine · Chaitanya Bandlamudi · Diana Mandelker · Alvaro N. A. Monteiro · Edwin S. Iversen · Nicholas Boddicker · Wenan Chen · Marcy E. Richardson · Fergus J. Couch
8 January 2025 at 08:00

Nature, Published online: 08 January 2025; doi:10.1038/s41586-024-08388-8

Results from a comprehensive evaluation of the function of BRCA2 variants, particularly variants of uncertain significance, provide a useful resource to improve the clinical management of individuals who carry such genetic variants.

Complex rearrangements fuel ER<sup>+</sup> and HER2<sup>+</sup> breast tumours

✇Nature - Issue - nature.com science feeds
By: Kathleen E. Houlahan · Lise Mangiante · Cristina Sotomayor-Vivas · Alvina Adimoelja · Seongyeol Park · Aziz Khan · Sophia J. Pribus · Zhicheng Ma · Jennifer L. Caswell-Jin · Christina Curtis
8 January 2025 at 08:00

Nature, Published online: 08 January 2025; doi:10.1038/s41586-024-08377-x

A study identifies three dominant genomic archetypes of breast cancer induced by discrete mutational processes, describing a continuum of genomic profiles and detailing the mechanisms underlying the progression of breast cancer.
Received — 3 January 2025 ⏭ Favourites

High-resolution genomic history of early medieval Europe

✇Nature - Issue - nature.com science feeds
By: Leo Speidel · Marina Silva · Thomas Booth · Ben Raffield · Kyriaki Anastasiadou · Christopher Barrington · Anders Götherström · Peter Heather · Pontus Skoglund
1 January 2025 at 08:00

Nature, Published online: 01 January 2025; doi:10.1038/s41586-024-08275-2

Twigstats, a method for ancestry reconstruction, provides high-resolution genetic histories and movement patterns of people living in Europe during the first millennium ce.
Received — 31 December 2024 ⏭ Favourites

Transposable element exonization generates a reservoir of evolving and functional protein isoforms

✇Cell
By: Yago A. Arribas · Blandine Baudon · Maxime Rotival · Guadalupe Suárez · Pierre-Emmanuel Bonté · Vanessa Casas · Apollinaire Roubert · Paul Klein · Elisa Bonnin · Basma Mchich · Patricia Legoix · Sylvain Baulande · Benjamin Sadacca · Julien Diharce · Joshua J. Waterfall · Catherine Etchebest · Montserrat Carrascal · Christel Goudot · Lluís Quintana-Murci · Marianne Burbage · Antonela Merlotti · Sebastian Amigorena
11 December 2024 at 08:00
Transposable element exonization by unannotated splicing events produces stable protein isoforms with acquired functions that are subject to evolutionary selection.
Received — 24 December 2024 ⏭ Favourites

How to build the virtual cell with artificial intelligence: Priorities and opportunities

✇Cell
By: Charlotte Bunne · Yusuf Roohani · Yanay Rosen · Ankit Gupta · Xikun Zhang · Marcel Roed · Theo Alexandrov · Mohammed AlQuraishi · Patricia Brennan · Daniel B. Burkhardt · Andrea Califano · Jonah Cool · Abby F. Dernburg · Kirsty Ewing · Emily B. Fox · Matthias Haury · Amy E. Herr · Eric Horvitz · Patrick D. Hsu · Viren Jain · Gregory R. Johnson · Thomas Kalil · David R. Kelley · Shana O. Kelley · Anna Kreshuk · Tim Mitchison · Stephani Otte · Jay Shendure · Nicholas J. Sofroniew · Fabian Theis · Christina V. Theodoris · Srigokul Upadhyayula · Marc Valer · Bo Wang · Eric Xing · Serena Yeung-Levy · Marinka Zitnik · Theofanis Karaletsos · Aviv Regev · Emma Lundberg · Jure Leskovec · Stephen R. Quake
12 December 2024 at 08:00
Advances in AI and omics enable the creation of AI virtual cells (AIVCs)—multi-scale, multimodal neural network models that simulate molecules, cells, and tissues across diverse states. This vision outlines their design and collaborative development, promising to transform biological research through high-fidelity simulations, accelerating discoveries, and fostering interdisciplinary open science collaborations.

Author Correction: π-HuB: the proteomic navigator of the human body

✇Nature - Issue - nature.com science feeds
By: Fuchu He · Ruedi Aebersold · Mark S. Baker · Xiuwu Bian · Xiaochen Bo · Daniel W. Chan · Cheng Chang · Luonan Chen · Xiangmei Chen · Yu-Ju Chen · Heping Cheng · Ben C. Collins · Fernando Corrales · Jürgen Cox · Weinan E · Jennifer E. Van Eyk · Jia Fan · Pouya Faridi · Daniel Figeys · George Fu Gao · Wen Gao · Zu-Hua Gao · Keisuke Goda · Wilson Wen Bin Goh · Dongfeng Gu · Changjiang Guo · Tiannan Guo · Yuezhong He · Albert J. R. Heck · Henning Hermjakob · Tony Hunter · Narayanan Gopalakrishna Iyer · Ying Jiang · Connie R. Jimenez · Lokesh Joshi · Neil L. Kelleher · Ming Li · Yang Li · Qingsong Lin · Cui Hua Liu · Fan Liu · Guang-Hui Liu · Yansheng Liu · Zhihua Liu · Teck Yew Low · Ben Lu · Matthias Mann · Anming Meng · Robert L. Moritz · Edouard Nice · Guang Ning · Gilbert S. Omenn · Christopher M. Overall · Giuseppe Palmisano · Yaojin Peng · Charles Pineau · Terence Chuen Wai Poon · Anthony W. Purcell · Jie Qiao · Roger R. Reddel · Phillip J. Robinson · Paola Roncada · Chris Sander · Jiahao Sha · Erwei Song · Sanjeeva Srivastava · Aihua Sun · Siu Kwan Sze · Chao Tang · Liuju
23 December 2024 at 08:00

Nature, Published online: 23 December 2024; doi:10.1038/s41586-024-08555-x

Author Correction: π-HuB: the proteomic navigator of the human body

Embracing cancer complexity: Hallmarks of systemic disease

✇Cell
By: Charles Swanton， Elsa Bernard， Chris Abbosh， Fabrice André， Johan Auwerx， Allan Balmain， Dafna Bar-Sagi， René Bernards， Susan Bullman， James DeGregori， Catherine Elliott， Ayelet Erez， Gerard Evan， Mark A. Febbraio， Andrés Hidalgo， Mariam Jamal-Hanjani， Johanna A. Joyce， Matthew Kaiser， Katja Lamia， Jason W. Locasale， Sherene Loi， Ilaria Malanchi， Miriam Merad， Kathryn Musgrave， Ketan J. Patel， Sergio Quezada， Jennifer A. Wargo， Ashani Weeraratna， Eileen White， Frank Winkler， John N. Wood， Karen H. Vousden， Douglas Hanahan
28 March 2024 at 08:00
Cancer is a systemic disease in more than one dimension, in terms of its evolutionary course, direct crosstalk with the microenvironment, and intricate communication with the macro-environment. This broad perspective encompasses our understanding of cancer’s systemic features, mapping out the path for tackling its complexity to bridge what we can learn and who we need to help.

Evolutionary trajectories of small cell lung cancer under therapy

✇Nature - Issue - nature.com science feeds
By: Julie George · Lukas Maas · Nima Abedpour · Maria Cartolano · Laura Kaiser · Rieke N. Fischer · Andreas H. Scheel · Jan-Philipp Weber · Martin Hellmich · Graziella Bosco · Caroline Volz · Christian Mueller · Ilona Dahmen · Felix John · Cleidson Padua Alves · Lisa Werr · Jens Peter Panse · Martin Kirschner · Walburga Engel-Riedel · Jessica Jürgens · Erich Stoelben · Michael Brockmann · Stefan Grau · Martin Sebastian · Jan A. Stratmann · Jens Kern · Horst-Dieter Hummel · Balazs Hegedüs · Martin Schuler · Till Plönes · Clemens Aigner · Thomas Elter · Karin Toepelt · Yon-Dschun Ko · Sylke Kurz · Christian Grohé · Monika Serke · Katja Höpker · Lars Hagmeyer · Fabian Doerr · Khosro Hekmath · Judith Strapatsas · Karl-Otto Kambartel · Geothy Chakupurakal · Annette Busch · Franz-Georg Bauernfeind · Frank Griesinger · Anne Luers · Wiebke Dirks · Rainer Wiewrodt · Andrea Luecke · Ernst Rodermann · Andreas Diel · Volker Hagen · Kai Severin · Roland T. Ullrich · Hans Christian Reinhardt · Alexander Quaas · Magdalena Bogus · Cornelius Courts · Peter Nürnberg · Kerstin Becker
13 March 2024 at 08:00

Nature, Published online: 13 March 2024; doi:10.1038/s41586-024-07177-7

We uncover key processes of the genomic evolution of small cell lung cancer under therapy, identify the common ancestor as the source of clonal diversity at relapse and show central genomic patterns associated with drug response.

Genome-wide characterization of circulating metabolic biomarkers

✇Nature - Issue - nature.com science feeds
By: Minna K. Karjalainen · Savita Karthikeyan · Clare Oliver-Williams · Eeva Sliz · Elias Allara · Wing Tung Fung · Praveen Surendran · Weihua Zhang · Pekka Jousilahti · Kati Kristiansson · Veikko Salomaa · Matt Goodwin · David A. Hughes · Michael Boehnke · Lilian Fernandes Silva · Xianyong Yin · Anubha Mahajan · Matt J. Neville · Natalie R. van Zuydam · Renée de Mutsert · Ruifang Li-Gao · Dennis O. Mook-Kanamori · Ayse Demirkan · Jun Liu · Raymond Noordam · Stella Trompet · Zhengming Chen · Christiana Kartsonaki · Liming Li · Kuang Lin · Fiona A. Hagenbeek · Jouke Jan Hottenga · René Pool · M. Arfan Ikram · Joyce van Meurs · Toomas Haller · Yuri Milaneschi · Mika Kähönen · Pashupati P. Mishra · Peter K. Joshi · Erin Macdonald-Dunlop · Massimo Mangino · Jonas Zierer · Ilhan E. Acar · Carel B. Hoyng · Yara T. E. Lechanteur · Lude Franke · Alexander Kurilshikov · Alexandra Zhernakova · Marian Beekman · Erik B. van den Akker · Ivana Kolcic · Ozren Polasek · Igor Rudan · Christian Gieger · Melanie Waldenberger · Folkert W. Asselbergs · Caroline Hayward · Jingyuan Fu · A
6 March 2024 at 08:00

Nature, Published online: 06 March 2024; doi:10.1038/s41586-024-07148-y

A meta-analysis of genome-wide association studies for 233 circulating metabolites from 33 cohorts reveals more than 400 loci and suggests probable causal genes, providing insights into metabolic pathways and disease aetiology.

Pan-cancer proteogenomics characterization of tumor immunity

✇Cell
By: Francesca Petralia， Weiping Ma， Tomer M. Yaron， Francesca Pia Caruso， Nicole Tignor， Joshua M. Wang， Daniel Charytonowicz， Jared L. Johnson， Emily M. Huntsman， Giacomo B. Marino， Anna Calinawan， John Erol Evangelista， Myvizhi Esai Selvan， Shrabanti Chowdhury， Dmitry Rykunov， Azra Krek， Xiaoyu Song， Berk Turhan， Karen E. Christianson， David A. Lewis， Eden Z. Deng， Daniel J.B. Clarke， Jeffrey R. Whiteaker， Jacob J. Kennedy， Lei Zhao， Rossana Lazcano Segura， Harsh Batra， Maria Gabriela Raso， Edwin Roger Parra， Rama Soundararajan， Ximing Tang， Yize Li， Xinpei Yi， Shankha Satpathy， Ying Wang， Maciej Wiznerowicz， Tania J. González-Robles， Antonio Iavarone， Sara J.C. Gosline， Boris Reva， Ana I. Robles， Alexey I. Nesvizhskii， D.R. Mani， Michael A. Gillette， Robert J. Klein， Marcin Cieslik， Bing Zhang， Amanda G. Paulovich， Robert Sebra， Zeynep H. Gümüş， Galen Hostetter， David Fenyö， Gilbert S. Omenn， Lewis C
14 February 2024 at 08:00
Immunotherapy holds strong promise for cancer treatment but at present benefits only a small proportion of cases. A pan-cancer analysis of the immune landscape in more than 1,000 tumors across ten cancer types reveals immune surveillance and immune evasion mechanisms as well as potential molecular target that could augment future immunotherapy and precision medicine strategies.

Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City

✇Nature - Issue - nature.com science feeds
By: Andrey Ziyatdinov · Jason Torres · Jesús Alegre-Díaz · Joshua Backman · Joelle Mbatchou · Michael Turner · Sheila M. Gaynor · Tyler Joseph · Yuxin Zou · Daren Liu · Rachel Wade · Jeffrey Staples · Razvan Panea · Alex Popov · Xiaodong Bai · Suganthi Balasubramanian · Lukas Habegger · Rouel Lanche · Alex Lopez · Evan Maxwell · Marcus Jones · Humberto García-Ortiz · Raul Ramirez-Reyes · Rogelio Santacruz-Benítez · Abhishek Nag · Katherine R. Smith · Amy Damask · Nan Lin · Charles Paulding · Mark Reppell · Sebastian Zöllner · Eric Jorgenson · William Salerno · Slavé Petrovski · John Overton · Jeffrey Reid · Timothy A. Thornton · Gonçalo Abecasis · Jaime Berumen · Lorena Orozco-Orozco · Rory Collins · Adolfo Ferrando · Michael Cantor · Giovanni Coppola · Andrew Deubler · Aris Economides · Katia Karalis · Luca A. Lotta · Lyndon J. Mitnaul · John D. Overton · Jeffrey G. Reid · Alan Shuldiner · Katherine Siminovitch · Christina Beechert · Erin D. Brian · Laura M. Cremona · Hang Du · Caitlin Forsythe · Zhenhua Gu · Kristy Guevara · Michael Lattari · Alexander Lopez · Kia
8 February 2024 at 08:00

Nature, Published online: 08 February 2024; doi:10.1038/s41586-024-07051-6

Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City

Pancreatic cancer acquires resistance to MAPK pathway inhibition by clonal expansion and adaptive DNA hypermethylation

✇Most Recent Articles: Clinical Epigenetics
By: Laura K. Godfrey， Jan Forster， Sven-Thorsten Liffers， Christopher Schröder， Johannes Köster， Leonie Henschel， Kerstin U. Ludwig， David Lähnemann， Marija Trajkovic-Arsic， Diana Behrens， Aldo Scarpa， Rita T. Lawlor， Kathrin E. Witzke， Barbara Sitek， Steven A. Johnsen， Sven Rahmann＆hellip；
16 January 2024 at 08:00
Pancreatic ductal adenocarcinoma (PDAC) is an aggressive cancer with poor prognosis. It is marked by extraordinary resistance to conventional therapies including chemotherapy and radiation, as well as to essen...

Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes

✇Nature - Issue - nature.com science feeds
By: Siwei Chen · Laurent C. Francioli · Julia K. Goodrich · Ryan L. Collins · Masahiro Kanai · Qingbo Wang · Jessica Alföldi · Nicholas A. Watts · Christopher Vittal · Laura D. Gauthier · Timothy Poterba · Michael W. Wilson · Yekaterina Tarasova · William Phu · Riley Grant · Mary T. Yohannes · Zan Koenig · Yossi Farjoun · Eric Banks · Stacey Donnelly · Stacey Gabriel · Namrata Gupta · Steven Ferriera · Charlotte Tolonen · Sam Novod · Louis Bergelson · David Roazen · Valentin Ruano-Rubio · Miguel Covarrubias · Christopher Llanwarne · Nikelle Petrillo · Gordon Wade · Thibault Jeandet · Ruchi Munshi · Kathleen Tibbetts · Maria Abreu · Carlos A. Aguilar Salinas · Tariq Ahmad · Christine M. Albert · Diego Ardissino · Irina M. Armean · Elizabeth G. Atkinson · Gil Atzmon · John Barnard · Samantha M. Baxter · Laurent Beaugerie · Emelia J. Benjamin · David Benjamin · Michael Boehnke · Lori L. Bonnycastle · Erwin P. Bottinger · Donald W. Bowden · Matthew J. Bown · Harrison Brand · Steven Brant · Ted Brookings · Sam Bryant · Sarah E. Calvo · Hannia Campos · John C. Chambers · Juli
15 January 2024 at 08:00

Nature, Published online: 15 January 2024; doi:10.1038/s41586-024-07050-7

Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes

Mitochondrial dysfunction abrogates dietary lipid processing in enterocytes

✇Nature - Issue - nature.com science feeds
By: Chrysanthi Moschandrea · Vangelis Kondylis · Ioannis Evangelakos · Marija Herholz · Farina Schneider · Christina Schmidt · Ming Yang · Sandra Ehret · Markus Heine · Michelle Y. Jaeckstein · Karolina Szczepanowska · Robin Schwarzer · Linda Baumann · Theresa Bock · Efte
20 December 2023 at 08:00

Nature, Published online: 20 December 2023; doi:10.1038/s41586-023-06857-0

Mitochondria have a pivotal role in the transport of dietary lipids in enterocytes, a finding that might have relevance to understanding the aberrant gastrointestinal function in patients with mitochondrial disorders.
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