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Showing 1–39 of 39 results

Advanced filters: Author: Robert Cook-Deegan Clear advanced filters

Using the linear references from the pangenome to discover missing autism variants

Large-effect variants in autism remain elusive. Here, the authors use long-read sequencing to assemble phased genomes for 189 individuals, identifying pathogenic variants in TBL1XR1, MECP2, and SYNGAP1, plus nine candidate structural variants missed by short-read methods.

Yang Sui
Jiadong Lin
Evan E. Eichler
ResearchOpen Access23 Jan 2026
Nature Communications

P: 1-16
Community crystal gazing

A selection of individuals from the biotech ecosystem give their views on the challenges facing the sector over the coming years.

Anu Acharya
Kate Bingham
Daphne Zohar
Special Features10 Mar 2016
Nature Biotechnology

Volume: 34, P: 276-283
Reply to Wrong fixes for gene patents

Robert Cook-Deegan
Subhashini Chandrasekharan
Lori Knowles
Correspondence07 Dec 2010
Nature Biotechnology

Volume: 28, P: 1243
The dangers of diagnostic monopolies

In the first of two commentaries on intellectual property, Robert Cook-Deegan, Subhashini Chandrasekharan and Misha Angrist show how the United States can address glitches with exclusive licences.

Robert Cook-Deegan
Subhashini Chandrasekharan
Misha Angrist
Comments & Opinion25 Mar 2009
Nature

Volume: 458, P: 405-406
Ownership of human genes

Robert Mullan Cook-Deegan
LeRoy Walters
Stephen McCormack
Correspondence04 Jul 1996
Nature

Volume: 382, P: 17-18
Impact of gene patents and licensing practices on access to genetic testing for Alzheimer disease

Katie Skeehan
Christopher Heaney
Robert Cook-Deegan
Research01 Apr 2010
Genetics in Medicine

Volume: 12, P: S71-S82
Erratum: Community crystal gazing

Anu Acharya
Kate Bingham
Daphne Zohar
Amendments and Corrections09 Jun 2016
Nature Biotechnology

Volume: 34, P: 666
Correction: Corrigendum: Intellectual property, technology transfer and manufacture of low-cost HPV vaccines in India

Swathi Padmanabhan
Tahir Amin
Subhashini Chandrasekharan
Amendments and Corrections08 Feb 2012
Nature Biotechnology

Volume: 30, P: 193
A draft human pangenome reference

An initial draft of the human pangenome is presented and made publicly available by the Human Pangenome Reference Consortium; the draft contains 94 de novo haplotype assemblies from 47 ancestrally diverse individuals.

Wen-Wei Liao
Mobin Asri
Benedict Paten
ResearchOpen Access10 May 2023
Nature

Volume: 617, P: 312-324
Gene patents and licensing: Case studies prepared for the Secretary's Advisory Committee on Genetics, Health, and Society

Robert Cook-Deegan
Christopher Heaney
Editorial01 Apr 2010
Genetics in Medicine

Volume: 12, P: S1-S2
DNA sequence patents are not in the grave yet

Robert Cook-Deegan
Arti K Rai
Correspondence01 Feb 2009
Nature Biotechnology

Volume: 27, P: 122
The Human Genome Project after a decade: policy issues

John Burris
Robert Cook-Deegan
Bruce Alberts
Comments & Opinion01 Dec 1998
Nature Genetics

Volume: 20, P: 333-335
In support of mitochondrial replacement therapy

Eli Y. Adashi
Arthur L. Caplan
LeRoy Walters
Correspondence03 Jun 2019
Nature Medicine

Volume: 25, P: 870-871
Recombination between heterologous human acrocentric chromosomes

Comparisons within the human pangenome establish that homologous regions on short arms of heterologous human acrocentric chromosomes actively recombine, leading to the high rate of Robertsonian translocation breakpoints in these regions.

Andrea Guarracino
Silvia Buonaiuto
Erik Garrison
ResearchOpen Access10 May 2023
Nature

Volume: 617, P: 335-343
Pangenome graph construction from genome alignments with Minigraph-Cactus

Constructing genome graphs directly from genome assemblies overcomes single-reference bias.

Glenn Hickey
Jean Monlong
Benedict Paten
Research10 May 2023
Nature Biotechnology

Volume: 42, P: 663-673
Increased mutation and gene conversion within human segmental duplications

A study comparing the pattern of single-nucleotide variation between unique and duplicated regions of the human genome shows that mutation rate and interlocus gene conversion are elevated in duplicated regions.

Mitchell R. Vollger
Philip C. Dishuck
Evan E. Eichler
ResearchOpen Access10 May 2023
Nature

Volume: 617, P: 325-334
Venter's Last Strand

Robert Cook-Deegan
Books & Arts01 Mar 2004
Nature Genetics

Volume: 36, P: 210
Neurocognitive enhancement: what can we do and what should we do?

Martha J. Farah
Judy Illes
Paul Root Wolpe
Comments & Opinion01 May 2004
Nature Reviews Neuroscience

Volume: 5, P: 421-425
DNA patents and diagnostics: not a pretty picture

Restrictive licensing practices on DNA patents are stymieing clinical access and research on genetic diagnostic testing. Diagnostic companies, university tech transfer offices and their respective associations need to pay more attention.

Julia Carbone
E Richard Gold
Robert Cook-Deegan
Comments & Opinion01 Aug 2010
Nature Biotechnology

Volume: 28, P: 784-791
Impact of gene patents and licensing practices on access to genetic testing for inherited susceptibility to cancer: Comparing breast and ovarian cancers with colon cancers

Robert Cook-Deegan
Christopher Derienzo
Christopher Conover
Research01 Apr 2010
Genetics in Medicine

Volume: 12, P: S15-S38
Keeping score, strengthening policy and fighting bad actors over access to research tools

A mix of policy options that enhances access to research tools is available to courts, legislators and government bureaucracies, including research agencies and patent offices.

Tania Bubela
Robert Cook-Deegan
Comments & Opinion06 Feb 2015
Nature Biotechnology

Volume: 33, P: 143-147
Evidence and anecdotes: an analysis of human gene patenting controversies

When it comes to gene patenting, policy makers may be responding more to high-profile media controversies than to systematic data about the issues.

Timothy Caulfield
Robert M Cook-Deegan
John P Walsh
Comments & Opinion01 Sept 2006
Nature Biotechnology

Volume: 24, P: 1091-1094
Developing context-specific next-generation sequencing policy

Margaret Ann Curnutte
Karen L Frumovitz
Mary A Majumder
Correspondence06 May 2016
Nature Biotechnology

Volume: 34, P: 466-470
The Human Pangenome Project: a global resource to map genomic diversity

The Human Pangenome Reference Consortium aims to offer the highest quality and most complete human pangenome reference that provides diverse genomic representation across human populations.

Ting Wang
Lucinda Antonacci-Fulton
David Haussler
Reviews20 Apr 2022
Nature

Volume: 604, P: 437-446
Intellectual property, technology transfer and manufacture of low-cost HPV vaccines in India

An empirical study of the impact of patenting and licensing on regional manufacturing of human papilloma virus vaccines to help improve vaccine affordability and access.

Swathi Padmanabhan
Tahir Amin
Subhashini Chandrasekharan
Comments & Opinion01 Jul 2010
Nature Biotechnology

Volume: 28, P: 671-678
Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis

Subhashini Chandrasekharan
Emily Pitlick
Robert Cook-Deegan
Research01 Apr 2010
Genetics in Medicine

Volume: 12, P: S155-S170
Impact of gene patents and licensing practices on access to genetic testing for long QT syndrome

Misha Angrist
Subhashini Chandrasekharan
Robert Cook-Deegan
Research01 Apr 2010
Genetics in Medicine

Volume: 12, P: S111-S154
Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease

Alessandra Colaianni
Subhashini Chandrasekharan
Robert Cook-Deegan
Research01 Apr 2010
Genetics in Medicine

Volume: 12, P: S5-S14
Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis

Subhashini Chandrasekharan
Christopher Heaney
Robert Cook-Deegan
Research01 Apr 2010
Genetics in Medicine

Volume: 12, P: S194-S211
Spinocerebellar ataxia: Patient and health professional perspectives on whether and how patents affect access to clinical genetic testing

Ashton Powell
Subhashini Chandrasekharan
Robert Cook-Deegan
Research01 Apr 2010
Genetics in Medicine

Volume: 12, P: S83-S110
Public variant databases: liability?

Adrian Thorogood
Robert Cook-Deegan
Bartha Maria Knoppers
ResearchOpen Access15 Dec 2016
Genetics in Medicine

Volume: 19, P: 838-841
Incorporating ethnicity into genetic risk assessment for Alzheimer disease: the REVEAL study experience

Kurt D Christensen
J Scott Roberts
Robert C Green
Research01 Mar 2008
Genetics in Medicine

Volume: 10, P: 207-214
The licensing of DNA patents by US academic institutions: an empirical survey

A survey of technology transfer of DNA inventions at 19 top US research universities reveals consensus, diversity and flexibility in intellectual property management. Patent filing and license terms are influenced by intended uses of inventions, outside market interest and NIH guidelines.

Lori Pressman
Richard Burgess
LeRoy Walters
Special Features01 Jan 2006
Nature Biotechnology

Volume: 24, P: 31-39
A collaboratively derived international research agenda on legislative science advice

Karen Akerlof
Chris Tyler
Masaru Yarime
ResearchOpen Access17 Sept 2019
Palgrave Communications

Volume: 5, P: 1-13
The next controversy in genetic testing: clinical data as trade secrets?

Robert Cook-Deegan
John M Conley
Daniel Vorhaus
ReviewsOpen Access14 Nov 2012
European Journal of Human Genetics

Volume: 21, P: 585-588
Sharing data under the 21st Century Cures Act

Mary A Majumder
Christi J Guerrini
Amy L McGuire
Reviews25 May 2017
Genetics in Medicine

Volume: 19, P: 1289-1294
The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study

Sato Ashida
Laura M Koehly
Robert C Green
Research28 Jul 2010
European Journal of Human Genetics

Volume: 18, P: 1296-1301
A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone

Kurt D Christensen
Wendy R Uhlmann
Robert C Green
Research20 Jul 2017
Genetics in Medicine

Volume: 20, P: 132-141
Effectiveness of a condensed protocol for disclosing APOE genotype and providing risk education for Alzheimer disease

J. Scott Roberts
Clara A. Chen
Robert C. Green
Research12 Apr 2012
Genetics in Medicine

Volume: 14, P: 742-748