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Research | 31 October 2012 | Open
An integrated map of genetic variation from 1,092 human genomes
Nature 491 , 56–65

Rights & permissionsfor article An integrated map of genetic variation from 1,092 human genomes . Opens in a new window.
Research | 24 June 2020
Whole-genome sequencing of patients with rare diseases in a national health system
- Ernest Turro
- , William J. Astle
- , Karyn Megy
- , Stefan Gräf
- , Daniel Greene
- , Olga Shamardina
- , Hana Lango Allen
- , Alba Sanchis-Juan
- , Mattia Frontini
- , Chantal Thys
- , Jonathan Stephens
- , Rutendo Mapeta
- , Oliver S. Burren
- , Kate Downes
- , Matthias Haimel
- , Salih Tuna
- , Sri V. V. Deevi
- , Timothy J. Aitman
- , David L. Bennett
- , Paul Calleja
- , Keren Carss
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- , Patrick F. Chinnery
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- , Ania Koziell
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- , Eamonn R. Maher
- , Hugh S. Markus
- , Joannella Morales
- , Nicholas W. Morrell
- , Andrew D. Mumford
- , Elizabeth Ormondroyd
- , Stuart Rankin
- , Augusto Rendon
- , Sylvia Richardson
- , Irene Roberts
- , Noemi B. A. Roy
- , Moin A. Saleem
- , Kenneth G. C. Smith
- , Hannah Stark
- , Rhea Y. Y. Tan
- , Andreas C. Themistocleous
- , Adrian J. Thrasher
- , Hugh Watkins
- , Andrew R. Webster
- , Martin R. Wilkins
- , Catherine Williamson
- , James Whitworth
- , Sean Humphray
- , David R. Bentley
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- , David J. Allsup
- , Jeff Almeida-King
- , Philip Ancliff
- , Richard Antrobus
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- , David R. Bentley
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- , Tina Biss
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- , Iulia Blesneac
- , Detlef Bockenhauer
- , Harm Bogaard
- , Christian J. Bourne
- , Sara Boyce
- , John R. Bradley
- , Eugene Bragin
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- , Rosie Hague
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- , Claire L. Harris
- , Daniel Hart
- , Ahamad Hassan
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- , Stuart Meacham
- , Adam J. Mead
- , Ignacio Medina Castello
- , Karyn Megy
- , Sarju G. Mehta
- , Michel Michaelides
- , Carolyn Millar
- , Shehla N. Mohammed
- , Shahin Moledina
- , David Montani
- , Anthony T. Moore
- , Joannella Morales
- , Nicholas W. Morrell
- , Monika Mozere
- , Keith W. Muir
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- , Andrea H. Nemeth
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- , Sadia Noorani
- , Paquita Nurden
- , Jennifer O’Sullivan
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- , Chris Odhams
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- , Andrea Olschewski
- , Horst Olschewski
- , Kai Ren Ong
- , S. Helen Oram
- , Elizabeth Ormondroyd
- , Willem H. Ouwehand
- , Claire Palles
- , Sofia Papadia
- , Soo-Mi Park
- , David Parry
- , Smita Patel
- , Joan Paterson
- , Andrew Peacock
- , Simon H. Pearce
- , John Peden
- , Kathelijne Peerlinck
- , Christopher J. Penkett
- , Joanna Pepke-Zaba
- , Romina Petersen
- , Clarissa Pilkington
- , Kenneth E. S. Poole
- , Radhika Prathalingam
- , Bethan Psaila
- , Angela Pyle
- , Richard Quinton
- , Shamima Rahman
- , Stuart Rankin
- , Anupama Rao
- , F. Lucy Raymond
- , Paula J. Rayner-Matthews
- , Christine Rees
- , Augusto Rendon
- , Tara Renton
- , Christopher J. Rhodes
- , Andrew S. C. Rice
- , Sylvia Richardson
- , Alex Richter
- , Leema Robert
- , Irene Roberts
- , Anthony Rogers
- , Sarah J. Rose
- , Robert Ross-Russell
- , Catherine Roughley
- , Noemi B. A. Roy
- , Deborah M. Ruddy
- , Omid Sadeghi-Alavijeh
- , Moin A. Saleem
- , Nilesh Samani
- , Crina Samarghitean
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- , Robert N. Sarkany
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- , John A. Sayer
- , Genevieve Sayer
- , Laura Scelsi
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- , Marie Scully
- , Claire Searle
- , Werner Seeger
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- , Denis Seyres
- , Neil Shah
- , Olga Shamardina
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- , Adam C. Shaw
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Nature 583 , 96–102

Rights & permissionsfor article Whole-genome sequencing of patients with rare diseases in a national health system . Opens in a new window.
Amendments and Corrections | 2 October 2018 | Open
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
- Cyril Mignot
- , Aoife C. McMahon
- , Claire Bar
- , Philippe M. Campeau
- , Claire Davidson
- , Julien Buratti
- , Caroline Nava
- , Marie-Line Jacquemont
- , Marilyn Tallot
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- , Patrick Edery
- , Pauline Marzin
- , Giulia Barcia
- , Christine Barnerias
- , Claude Besmond
- , Thierry Bienvenu
- , Ange-Line Bruel
- , Ledia Brunga
- , Berten Ceulemans
- , Christine Coubes
- , Ana G. Cristancho
- , Fiona Cunningham
- , Marie-Bertille Dehouck
- , Elizabeth J. Donner
- , Bénédicte Duban-Bedu
- , Christèle Dubourg
- , Elena Gardella
- , Julie Gauthier
- , David Geneviève
- , Stéphanie Gobin-Limballe
- , Ethan M. Goldberg
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- , Emílie Vyhnálková
- , Catheline Vilain
- , Julie Soblet
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- , Samuel P. Yang
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- , Peter M. van Hasselt
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- , Sarah Weckhuysen
- , Ingo Helbig
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- , Bobby Koeleman
- , Rikke S. Møller
- , Gaetan Lesca
- , Katherine L. Helbig
- , Rima Nabbout
- , Nienke E. Verbeek
- & Christel Depienne
Genetics in Medicine 21 , 1897–1898

Rights & permissionsfor article Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients . Opens in a new window.
Correspondence | 1 August 2006
TranscriptSNPView: a genome-wide catalog of mouse coding variation
- Fiona Cunningham
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Nature Genetics 38 , 853–853

Rights & permissionsfor article TranscriptSNPView: a genome-wide catalog of mouse coding variation . Opens in a new window.
Research | 30 May 2019 | Open
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
- Anja Thormann
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Nature Communications 10 , 1–10

Rights & permissionsfor article Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP . Opens in a new window.
Research | 8 March 2019 | Open
Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02
- Christos Tziotzios
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- , Nick Dand
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- , Venu Pullabhatla
- , Alexandros Onoufriadis
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Nature Communications 10 , 1–9

Rights & permissionsfor article Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including <i>HLA-B*07:02</i> . Opens in a new window.
Research | 12 September 2018 | Open
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
- Cyril Mignot
- , Aoife C. McMahon
- , Claire Bar
- , Philippe M Campeau
- , Claire Davidson
- , Julien Buratti
- , Caroline Nava
- , Marie-Line Jacquemont
- , Marilyn Tallot
- , Mathieu Milh
- , Patrick Edery
- , Pauline Marzin
- , Giulia Barcia
- , Christine Barnerias
- , Claude Besmond
- , Thierry Bienvenu
- , Ange-Line Bruel
- , Ledia Brunga
- , Berten Ceulemans
- , Christine Coubes
- , Ana G. Cristancho
- , Fiona Cunningham
- , Marie-Bertille Dehouck
- , Elizabeth J. Donner
- , Bénédicte Duban-Bedu
- , Christèle Dubourg
- , Elena Gardella
- , Julie Gauthier
- , David Geneviève
- , Stéphanie Gobin-Limballe
- , Ethan M. Goldberg
- , Eveline Hagebeuk
- , Fadi F. Hamdan
- , Miroslava Hančárová
- , Laurence Hubert
- , Christine Ioos
- , Shoji Ichikawa
- , Sandra Janssens
- , Hubert Journel
- , Anna Kaminska
- , Boris Keren
- , Marije Koopmans
- , Caroline Lacoste
- , Petra Laššuthová
- , Damien Lederer
- , Daphné Lehalle
- , Dragan Marjanovic
- , Julia Métreau
- , Jacques L. Michaud
- , Kathryn Miller
- , Berge A. Minassian
- , Joannella Morales
- , Marie-Laure Moutard
- , Arnold Munnich
- , Xilma R. Ortiz-Gonzalez
- , Jean-Marc Pinard
- , Darina Prchalová
- , Audrey Putoux
- , Chloé Quelin
- , Alyssa R. Rosen
- , Joelle Roume
- , Elsa Rossignol
- , Marleen E. H. Simon
- , Thomas Smol
- , Natasha Shur
- , Ivan Shelihan
- , Katalin Štěrbová
- , Emílie Vyhnálková
- , Catheline Vilain
- , Julie Soblet
- , Guillaume Smits
- , Samuel P. Yang
- , Jasper J. van der Smagt
- , Peter M. van Hasselt
- , Marjan van Kempen
- , Sarah Weckhuysen
- , Ingo Helbig
- , Laurent Villard
- , Delphine Héron
- , Bobby Koeleman
- , Rikke S. Møller
- , Gaetan Lesca
- , Katherine L. Helbig
- , Rima Nabbout
- , Nienke E. Verbeek
- & Christel Depienne
Genetics in Medicine 21 , 837–849

Rights & permissionsfor article <i>IQSEC2</i>-related encephalopathy in males and females: a comparative study including 37 novel patients . Opens in a new window.
Research | 8 October 2018 | Open
Haplosaurus computes protein haplotypes for use in precision drug design
- William Spooner
- , William McLaren
- , Timothy Slidel
- , Donna K. Finch
- , Robin Butler
- , Jamie Campbell
- , Laura Eghobamien
- , David Rider
- , Christine Mione Kiefer
- , Matthew J. Robinson
- , Colin Hardman
- , Fiona Cunningham
- , Tristan Vaughan
- , Paul Flicek
- & Catherine Chaillan Huntington
Nature Communications 9 , 1–12

Rights & permissionsfor article Haplosaurus computes protein haplotypes for use in precision drug design . Opens in a new window.
Research | 30 September 2015 | Open
A global reference for human genetic variation
Nature 526 , 68–74

Rights & permissionsfor article A global reference for human genetic variation . Opens in a new window.
Research | 13 June 2014
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
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- , Senduran Balasubramaniam
- , John Burton
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Research | 27 October 2010 | Open
A map of human genome variation from population-scale sequencing
Nature 467 , 1061–1073

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Special Features | 18 December 2003
The International HapMap Project
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