Warning: pg_query(): Query failed: ERROR: missing chunk number 0 for toast value 29512337 in pg_toast_2619 in /dati/webiit-old/includes/database.pgsql.inc on line 138 Warning: ERROR: missing chunk number 0 for toast value 29512337 in pg_toast_2619 query: SELECT data, created, headers, expire, serialized FROM cache_page WHERE cid = 'https://www-old.iit.cnr.it/node/24300' in /dati/webiit-old/includes/database.pgsql.inc on line 159 Warning: pg_query(): Query failed: ERROR: missing chunk number 0 for toast value 29512337 in pg_toast_2619 in /dati/webiit-old/includes/database.pgsql.inc on line 138 Warning: ERROR: missing chunk number 0 for toast value 29512337 in pg_toast_2619 query: SELECT data, created, headers, expire, serialized FROM cache_page WHERE cid = 'https://www-old.iit.cnr.it/node/24300' in /dati/webiit-old/includes/database.pgsql.inc on line 159 EXCAVATOR: detecting copy number variants from whole-­‐exome sequencing data | IIT - CNR - Istituto di Informatica e Telematica
IIT Home Page CNR Home Page

EXCAVATOR: detecting copy number variants from whole-­‐exome sequencing data

We developed a novel software tool, EXCAVATOR, for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR combines a three-step normalization procedure with a novel heterogeneous hidden Markov model algorithm and a calling method that classifies genomic regions into five copy number states. We validate EXCAVATOR on three datasets and compare the results with three other methods. These analyses show that EXCAVATOR outperforms the other methods and is therefore a valuable tool for the investigation of CNVs in largescale projects, as well as in clinical research and diagnostics. EXCAVATOR is freely available at http://sourceforge.net/projects/excavatortool/


Genome Biology, 2013

Autori esterni: Alberto Magi (Univ. di Firenze), Lorenzo Tattini (Univ. di Firenze), Ingrid Cifola (CNR-ITB), Matteo Benelli (Univ. di Firenze), Eleonora Mangano (CNR-ITB), Cristina Battaglia (Univ. di Milano), Elena Bonora (Univ. di Bologna), Ants Kurg (University of Tartu), Marco Seri (Univ. di Bologna), pamela Magini (Univ. di Bologna), Betti Giusti (Univ. di Firenze), Giovanni Romeo (Univ. di Bologna), Tommaso Pippucci (Univ di Bologna), Gianluca De Bellis (CNR-ITB), Rosanna Abbate (U. di Firenze), Gian Franco Gensini (Univ. di Firenze)
Autori IIT:

Tipo: Articoli su riviste ISI
Area di disciplina: Computer Science & Engineering

Attività: Biologia computazionale