Imperial College London

ProfessorMichaelJohnson

Faculty of MedicineDepartment of Brain Sciences

Professor of Neurology and Genomic Medicine
 
 
 
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Contact

 

m.johnson Website

 
 
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Location

 

E419Burlington DanesHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Bellos:2012:10.1186/gb-2012-13-12-r120,
author = {Bellos, E and Johnson, MR and Coin, LJ},
doi = {10.1186/gb-2012-13-12-r120},
journal = {Genome Biology},
title = {cnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data},
url = {http://dx.doi.org/10.1186/gb-2012-13-12-r120},
volume = {13},
year = {2012}
}

RIS format (EndNote, RefMan)

TY  - JOUR
AB - Recent advances in sequencing technologies provide the means for identifying copy number variation (CNV) at an unprecedented resolution. A single next-generation sequencing experiment offers several features that can be used to detect CNV, yet current methods do not incorporate all available signatures into a unified model. cnvHiTSeq is an integrative probabilistic method for CNV discovery and genotyping that jointly analyzes multiple features at the population level. By combining evidence from complementary sources, cnvHiTSeq achieves high genotyping accuracy and a substantial improvement in CNV detection sensitivity over existing methods, while maintaining a low false discovery rate. cnvHiTSeq is available at http://sourceforge.net/projects/cnvhitseq
AU - Bellos,E
AU - Johnson,MR
AU - Coin,LJ
DO - 10.1186/gb-2012-13-12-r120
PY - 2012///
SN - 1474-7596
TI - cnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data
T2 - Genome Biology
UR - http://dx.doi.org/10.1186/gb-2012-13-12-r120
UR - http://hdl.handle.net/10044/1/61415
VL - 13
ER -