hal-00663790, version 1
Learning smoothing models of copy number profiles using breakpoint annotations
Toby Dylan Hocking
1, 2, 3Gudrun Schleiermacher 4, 5Isabelle Janoueix-Lerosey
4Olivier Delattre
4Francis Bach
1, 6Jean-Philippe Vert
2, 3
Résumé : Many models have been proposed to detect breakpoints in chromosomal copy number profiles, but it is usually not obvious to decide which is most effective for a given data set. Furthermore, most methods have a smoothing parameter that determines the number of breakpoints and must be chosen using various heuristics. We present three contributions toward automatic training of smoothing models. First, we propose to select the model and degree of smoothness that maximizes agreement with visual breakpoint region annotations. Second, we develop cross-validation procedures to estimate the error of the trained models. Third, we apply these methods to a new database of annotated neuroblastoma copy number profiles, which we make available as a public benchmark for testing new algorithms. Whereas previous studies have been qualitative or limited to simulated data, our approach is quantitative and suggests which algorithms are fastest and most accurate in practice on real data.
- 1 : SIERRA (INRIA Paris - Rocquencourt)
- INRIA : PARIS - ROCQUENCOURT – Ecole Normale Supérieure de Paris - ENS Paris – CNRS : UMR8548
- 2 : Centre de Bioinformatique (CBIO)
- Mines ParisTech
- 3 : Cancer et génôme: Bioinformatique, biostatistiques et épidémiologie d'un système complexe
- INSERM : U900 – Institut Curie – Mines ParisTech
- 4 : Unité de génétique et biologie des cancers
- INSERM : U830 – Institut Curie – Université Paris VI - Pierre et Marie Curie
- 5 : Département de Pédiatrie
- Institut Curie
- 6 : Laboratoire d'informatique de l'école normale supérieure (LIENS)
- CNRS : UMR8548 – Ecole Normale Supérieure de Paris - ENS Paris
- Domaine : Informatique/Intelligence artificielle
Informatique/Bio-informatique
Sciences du Vivant/Bio-Informatique, Biologie Systémique
- hal-00663790, version 1
- http://hal.inria.fr/hal-00663790
- oai:hal.inria.fr:hal-00663790
- Contributeur : Toby Dylan Hocking
- Soumis le : Vendredi 27 Janvier 2012, 15:23:45
- Dernière modification le : Vendredi 27 Janvier 2012, 15:47:21






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