Nature Search

A Multifaceted benchmarking of synthetic electronic health record generation models

Synthetic health data have the potential to mitigate privacy concerns when sharing data to support biomedical research and the development of innovative healthcare applications. In this work, the authors introduce a use case oriented benchmarking framework to evaluate data synthesis models through a set of utility and privacy metrics.

Chao Yan
Yao Yan
Bradley A. Malin
ResearchOpen Access09 Dec 2022
Nature Communications

Volume: 13, P: 1-18
Publisher Correction: Sociotechnical safeguards for genomic data privacy

Zhiyu Wan
James W. Hazel
Bradley A. Malin
Amendments and Corrections24 Mar 2022
Nature Reviews Genetics

Volume: 23, P: 453
Single-cell imaging reveals efficient nutrient uptake and growth of microalgae darkening the Greenland Ice Sheet

Blooms of pigmented microalgae accelerate glacier and ice sheet melting by reducing the surface albedo. Here, Halbach et al. use single-cell measurements of elemental composition and nutrient assimilation rates of glacier ice algae, showing that the algae are well adapted to the ice’s oligotrophic conditions and exhibit no significant changes in productivity in response to nutrient additions.

Laura Halbach
Katharina Kitzinger
Alexandre M. Anesio
ResearchOpen Access19 Feb 2025
Nature Communications

Volume: 16, P: 1-14
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.

Tianyun Wang
Kendra Hoekzema
Evan E. Eichler
ResearchOpen Access01 Oct 2020
Nature Communications

Volume: 11, P: 1-13
New insights into the genetic etiology of Alzheimer’s disease and related dementias

Meta-analysis of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia.

Céline Bellenguez
Fahri Küçükali
Jean-Charles Lambert
ResearchOpen Access04 Apr 2022
Nature Genetics

Volume: 54, P: 412-436
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Evan Eichler and colleagues use single-molecule molecular-inversion probes to sequence the coding and splicing regions of 208 candidate genes in more than 11,730 individuals with neurodevelopmental disorders. They report 91 genes with an excess of de novo or private disruptive mutations, identify 25 genes showing a bias for autism versus intellectual disability, and highlight a network associated with high-functioning autism.

Holly A F Stessman
Bo Xiong
Evan E Eichler
Research13 Feb 2017
Nature Genetics

Volume: 49, P: 515-526
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Investigation of variation in three cohorts has identified multiple genetic signals associated with the pregnancy-specific liver disorder, intrahepatic cholestasis of pregnancy, giving insight into the disease which can cause preterm birth and stillbirth.

Peter H. Dixon
Adam P. Levine
Catherine Williamson
ResearchOpen Access17 Aug 2022
Nature Communications

Volume: 13, P: 1-18
Genomic signals of migration and continuity in Britain before the Anglo-Saxons

Here, Martiniano et al. examine the genetic structure of northern Britain in the late BC/early AD using ancient genome sequencing of 9 individuals. They uncover evidence of far-reaching Roman and later Anglo-Saxon migrations within a background of Britons similar to the earlier Iron Age.

Rui Martiniano
Anwen Caffell
Daniel G. Bradley
ResearchOpen Access19 Jan 2016
Nature Communications

Volume: 7, P: 1-8
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang
Kendra Hoekzema
Evan E. Eichler
Amendments and CorrectionsOpen Access21 Oct 2020
Nature Communications

Volume: 11, P: 1
Areas of global importance for conserving terrestrial biodiversity, carbon and water

Global spatial data for terrestrial vertebrate and vascular plant diversity, above- and below-ground biomass carbon, and potential clean freshwater volume are combined in a joint optimization study to identify potential synergies for conservation management.

Martin Jung
Andy Arnell
Piero Visconti
Research23 Aug 2021
Nature Ecology & Evolution

Volume: 5, P: 1499-1509
Introducing mCODEGPT as a zero-shot information extraction from clinical free text data tool for cancer research

Zhang, Huang et al. introduce mCODEGPT, a zero-shot framework that extracts named entities as structured data from clinical notes of cancer patients using Large Language Models. Their hierarchical prompt engineering approach enables accuracy information extraction without relying on expert-labelled training data.

Kai Zhang
Tongtong Huang
Xiaoqian Jiang
ResearchOpen Access15 Oct 2025
Communications Medicine

Volume: 5, P: 1-14
Sociotechnical safeguards for genomic data privacy

In this Review, the authors describe technical and legal protection mechanisms for mitigating vulnerabilities in genomic data privacy. They also discuss how these protections are dependent on the context of data use such as in research, health care, direct-to-consumer testing or forensic investigations.

Zhiyu Wan
James W. Hazel
Bradley A. Malin
Reviews04 Mar 2022
Nature Reviews Genetics

Volume: 23, P: 429-445
Author Correction: Areas of global importance for conserving terrestrial biodiversity, carbon and water

Martin Jung
Andy Arnell
Piero Visconti
Amendments and Corrections23 Sept 2021
Nature Ecology & Evolution

Volume: 5, P: 1557
Computational strategic recruitment for representation and coverage studied in the All of Us Research Program

Victor A. Borza
Qingxia Chen
Bradley A. Malin
ResearchOpen Access03 Jul 2025
npj Digital Medicine

Volume: 8, P: 1-14
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

This study characterizes the properties of disease-causing mutations that produce sporadic amino acid replacements in proteins of people with autism and developmental delay. The mutations tend to cluster and reoccur at specific regions important to protein function, highlighting for future follow-up ∼200 candidate genes, many involved in neuronal signaling.

Madeleine R Geisheker
Gabriel Heymann
Evan E Eichler
Research19 Jun 2017
Nature Neuroscience

Volume: 20, P: 1043-1051
COLA-GLM: collaborative one-shot and lossless algorithms of generalized linear models for decentralized observational healthcare data

Qiong Wu
Jenna M. Reps
Yong Chen
ResearchOpen Access15 Jul 2025
npj Digital Medicine

Volume: 8, P: 1-11
Improving medical machine learning models with generative balancing for equity and excellence

Brandon Theodorou
Benjamin Danek
Jimeng Sun
ResearchOpen Access14 Feb 2025
npj Digital Medicine

Volume: 8, P: 1-11
Optimizing word embeddings for small datasets: a case study on patient portal messages from breast cancer patients

Qingyuan Song
Congning Ni
Zhijun Yin
ResearchOpen Access12 Jul 2024
Scientific Reports

Volume: 14, P: 1-9
Environment scan of generative AI infrastructure for clinical and translational science

Betina Idnay
Zihan Xu
Yifan Peng
ResearchOpen Access25 Jan 2025
npj Health Systems

Volume: 2, P: 1-11
A game theoretic approach to balance privacy risks and familial benefits

Jia Guo
Ellen Wright Clayton
Bradley A. Malin
ResearchOpen Access28 Apr 2023
Scientific Reports

Volume: 13, P: 1-15
Leveraging generative AI to prioritize drug repurposing candidates for Alzheimer’s disease with real-world clinical validation

Chao Yan
Monika E. Grabowska
Wei-Qi Wei
ResearchOpen Access26 Feb 2024
npj Digital Medicine

Volume: 7, P: 1-6
Registered access: authorizing data access

Stephanie O. M. Dyke
Mikael Linden
Paul Flicek
ResearchOpen Access02 Aug 2018
European Journal of Human Genetics

Volume: 26, P: 1721-1731
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Sandra Jansen
Alexander Hoischen
Bert B. A. de Vries
Research05 Dec 2017
European Journal of Human Genetics

Volume: 26, P: 54-63
Ethical, legal, and social implications of incorporating genomic information into electronic health records

Ribhi Hazin
Kyle B. Brothers
Iftikhar J. Kullo
Reviews12 Sept 2013
Genetics in Medicine

Volume: 15, P: 810-816
A community effort to protect genomic data sharing, collaboration and outsourcing

Shuang Wang
Xiaoqian Jiang
Lucila Ohno-Machado
ReviewsOpen Access27 Oct 2017
npj Genomic Medicine

Volume: 2, P: 1-6
Neptune: an environment for the delivery of genomic medicine

Venner Eric
Victoria Yi
Hana Zouk
Research13 Jul 2021
Genetics in Medicine

Volume: 23, P: 1838-1846

Search

A Multifaceted benchmarking of synthetic electronic health record generation models

Publisher Correction: Sociotechnical safeguards for genomic data privacy

Single-cell imaging reveals efficient nutrient uptake and growth of microalgae darkening the Greenland Ice Sheet

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Genomic signals of migration and continuity in Britain before the Anglo-Saxons

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Areas of global importance for conserving terrestrial biodiversity, carbon and water

Introducing mCODEGPT as a zero-shot information extraction from clinical free text data tool for cancer research

Sociotechnical safeguards for genomic data privacy

Author Correction: Areas of global importance for conserving terrestrial biodiversity, carbon and water

Computational strategic recruitment for representation and coverage studied in the All of Us Research Program

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

COLA-GLM: collaborative one-shot and lossless algorithms of generalized linear models for decentralized observational healthcare data

Improving medical machine learning models with generative balancing for equity and excellence

Optimizing word embeddings for small datasets: a case study on patient portal messages from breast cancer patients

Environment scan of generative AI infrastructure for clinical and translational science

A game theoretic approach to balance privacy risks and familial benefits

Leveraging generative AI to prioritize drug repurposing candidates for Alzheimer’s disease with real-world clinical validation

Registered access: authorizing data access

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Ethical, legal, and social implications of incorporating genomic information into electronic health records

A community effort to protect genomic data sharing, collaboration and outsourcing

Neptune: an environment for the delivery of genomic medicine

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