<p>Evaluation of Constrained Coding Regions (CCRs) for rare disease gene identification in 100000 Genomes Project pilot dataset</p>

Hywel J. Williams; Chris Odhams; Dimitris  Polychronopoulos; GOSgene; Genomics England

doi:10.7490/f1000research.1116083.1

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Williams HJ, Odhams C, Polychronopoulos D et al. Evaluation of Constrained Coding Regions (CCRs) for rare disease gene identification in 100000 Genomes Project pilot dataset [version 1; not peer reviewed]. F1000Research 2018, 7:1463 (poster) (https://doi.org/10.7490/f1000research.1116083.1)

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Evaluation of Constrained Coding Regions (CCRs) for rare disease gene identification in 100000 Genomes Project pilot dataset

Hywel J. Williams¹, Chris Odhams, Dimitris Polychronopoulos, GOSgene, Genomics England

Published 14 Sep 2018 (https://doi.org/10.7490/f1000research.1116083.1)

Author Affiliations

¹ UCL Great Ormond Street Institute of Child Health, UK

Copyright © 2018 Williams HJ et al. This is an open access work distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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CITE

Published 14 Sep 2018

Evaluation of Constrained Coding Regions (CCRs) for rare disease gene identification in 100000 Genomes Project pilot dataset
[version 1; not peer reviewed]

Hywel J. Williams¹, Chris Odhams, Dimitris Polychronopoulos, GOSgene, Genomics England

Author Affiliations

¹ UCL Great Ormond Street Institute of Child Health, UK

Presented at

Genome Informatics 2018

Abstract

Competing Interests

No competing interests were disclosed

Keywords

Genomics, rare disease, bioinformatics, genetics

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