# Whole-genome sequencing of patients with rare diseases in a national health system

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/whole-genome-sequencing-of-patients-with-rare-diseases-in-a-national-health/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Ernest Turro,William J. Astle,Karyn Mégy,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 Bennett,Paul Calleja,Keren Carss,Mark J. Caulfield,Patrick F. Chinnery,Peter Dixon,Daniel P. Gale,Roger James,Ania Koziell,Michael A. Laffan,Adam P. Levine,Eamonn R. Maher,Hugh S. Markus,Joannella Morales,Nicholas W. Morrell,Andrew Mumford,Elizabeth Ormondroyd,Stuart Rankin,Augusto Rendon,Sylvia Richardson,Irene Roberts,Noémi Roy,Moin A. Saleem,Kenneth G. C. Smith,Hannah Stark,Rhea Tan,Andreas C. Themistocleous,Adrian J. Thrasher,Hugh Watkins,Andrew R. Webster,Martin R. Wilkins,Catherine Williamson,James Whitworth,Sean Humphray,David R. Bentley,NIHR BioResource for the 100,000 Genomes Project,Stephen Abbs,Lara Abulhoul,Julian Adlard,Munaza Ahmed,Timothy J. Aitman,Hana Alachkar,David Allsup,J. P. Almeida,Philip Ancliff,Richard Antrobus,Ruth Armstrong,Gavin Arno,Sofie Ashford,William J. Astle,Anthony Attwood,Paul Aurora,Christian Babbs,Chiara Bacchelli,Tamam Bakchoul,Siddharth Banka,Tadbir K. Bariana,Julian Barwell,Joana Batista,Helen Baxendale,Phil Beales,David Bennett,David R. Bentley,Agnieszka Bierżyńska,Tina Biss,Maria Bitner‐Glindzicz,Graeme C. Black,Marta Bleda,Iulia Blesneac,Detlef Böckenhauer,Harm Jan Bogaard,Christian Bourne,Sara Boyce,John R. Bradley,Eugene Bragin,Gerome Breen,Paul Brennan,Carole Brewer,Matthew A. Brown,Andrew C. Browning,Michael J. Browning,Rachel Buchan |
| Citations | 586 |
| DOI | 10.1038/s41586-020-2434-2 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OA URL | https://www.ncbi.nlm.nih.gov/pmc/articles/7610553 |
| OpenAlex ID | https://openalex.org/W3038072559 |
| PMID | 32581362 |
| Type | article |
| Year | 2020 |

## Paper authors

- [Eamonn R. Maher](https://scholariq.org/researchers/eamonn-r-maher/)
- [Daniel P. Gale](https://scholariq.org/researchers/daniel-p-gale/)
- [Detlef Böckenhauer](https://scholariq.org/researchers/detlef-bockenhauer/)
- [John A. Sayer](https://scholariq.org/researchers/john-a-sayer/)
- [Ali G. Gharavi](https://scholariq.org/researchers/ali-g-gharavi/)
- [Luigi Grassi](https://scholariq.org/researchers/luigi-grassi/)
- [Michel Michaelides](https://scholariq.org/researchers/michel-michaelides/)

## Paper journal

- [Nature](https://scholariq.org/journals/nature/)

## Paper primary topic

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Paper topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Genetic factors in colorectal cancer](https://scholariq.org/topics/genetic-factors-in-colorectal-cancer/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.