# 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/100-000-genomes-pilot-on-rare-disease-diagnosis-in-health-care-preliminary/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Damian Smedley,Smedley, Damian,Katherine R. Smith,Martin, Antonio,Thomas, Ellen A,McDonagh, Ellen M,Cipriani, Valentina,Ellingford, Jamie M,Arno, Gavin,Tucci, Arianna,Vandrovcova, Jana,Chan, Georgia,Williams, Hywel J,Ratnaike, Thiloka,Wei, Wei,Stirrups, Kathleen,Ibanez, Kristina,Moutsianas, Loukas,Wielscher, Matthias,Need, Anna,Michael R. Barnes,Letizia Vestito,James Buchanan,Sarah Wordsworth,Sofie Ashford,Rehmström, Karola,Emily Li,Gavin Fuller,Philip Twiss,Olivera Spasić-Bošković,Halsall, Sally,Floto, R Andres,Kenneth Poole,Annette Wagner,Sarju Mehta,Mark Gurnell,Nigel Burrows,Roger James,Christopher J. Penkett,Eleanor Dewhurst,Stefan Gräf,Rutendo Mapeta,Mary Kasanicki,Andrea Haworth,Helen Savage,Melanie Babcock,Martin G. Reese,Mark Bale,Emma L. Baple,C. R. Boustred,Helen Brittain,Anna de Burca,Marta Bleda,A. Devereau,Dina Halai,Eik Haraldsdottir,Zerin Hyder,Dalia Kasperavičiūtė,Christine Patch,Dimitris Polychronopoulos,Angela Matchan,Răzvan Sultana,Mina Ryten,Ana Lisa Taylor Tavares,Carolyn Tregidgo,Clare Turnbull,M. J. Welland,S. M. Wood,Catherine Snow,Eleanor Williams,S. E. A. Leigh,Rebecca E. Foulger,Louise C. Daugherty,Olivia Niblock,Ivone Leong,Caroline F. Wright,Jim Davies,Charles Crichton,James Welch,Kerrie Woods,Lara Abulhoul,Paul Aurora,Detlef Böckenhauer,Alexander Broomfield,Maureen Cleary,Lam, Tanya,Mehul Dattani,Emma Footitt,Vijeya Ganesan,Stephanie Grünewald,Sandrine Compeyrot‐Lacassagne,Francesco Muntoni,Clarissa Pilkington,Rosaline C. M. Quinlivan,Nikhil Thapar,Colin Wallis,Lucy R. Wedderburn,Austen Worth,Teofila Bueser,Cecilia Compton |
| Citations | 321 |
| DOI | 10.17863/cam.108059 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OA URL | https://discovery.ucl.ac.uk/10138417/1/nejmoa2035790.pdf |
| OpenAlex ID | https://openalex.org/W4226322299 |
| Type | article |
| Year | 2021 |

## Paper authors

- [Detlef Böckenhauer](https://scholariq.org/researchers/detlef-bockenhauer/)
- [Michel Michaelides](https://scholariq.org/researchers/michel-michaelides/)
- [John A. Sayer](https://scholariq.org/researchers/john-a-sayer/)

## 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.