Cpipe: a shared variant detection pipeline designed for diagnostic settings

[1]  Andrew I. Su,et al.  Omics Pipe: a community-based framework for reproducible multi-omics data analysis , 2015, Bioinform..

[2]  Alejandro Sifrim,et al.  Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data , 2015, The Lancet.

[3]  Peter White,et al.  Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics , 2015, Genome Biology.

[4]  Kenneth D. Doig,et al.  Bioinformatics Pipelines for Targeted Resequencing and Whole-Exome Sequencing of Human and Mouse Genomes: A Virtual Appliance Approach for Instant Deployment , 2014, PloS one.

[5]  Simon White,et al.  Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline , 2014, BMC Bioinformatics.

[6]  Fabian A. Buske,et al.  NGSANE: a lightweight production informatics framework for high-throughput data analysis , 2014, Bioinform..

[7]  P. Coggill,et al.  New mini- zincin structures provide a minimal scaffold for members of this metallopeptidase superfamily , 2014, BMC Bioinformatics.

[8]  Thérèse Vachon,et al.  Development and tuning of an original search engine for patent libraries in medicinal chemistry , 2014, BMC Bioinformatics.

[9]  Magalie S Leduc,et al.  Clinical whole-exome sequencing for the diagnosis of mendelian disorders. , 2013, The New England journal of medicine.

[10]  Heng Li.  Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM , 2013, 1303.3997.

[11]  Heidi L. Rehm,et al.  Disease-targeted sequencing: a cornerstone in the clinic , 2013, Nature Reviews Genetics.

[12]  Bernard J. Pope,et al.  Bpipe: a tool for running and managing bioinformatics pipelines , 2012, Bioinform..

[13]  Pablo Cingolani,et al.  © 2012 Landes Bioscience. Do not distribute. , 2022 .

[14]  Jeroen F. J. Laros,et al.  LOVD v.2.0: the next generation in gene variant databases , 2011, Human mutation.

[15]  A. Gonzalez-Perez,et al.  Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. , 2011, American journal of human genetics.

[16]  Sivakumar Gowrisankar,et al.  Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications. , 2010, The Journal of molecular diagnostics : JMD.

[17]  D. Altshuler,et al.  A map of human genome variation from population-scale sequencing , 2010, Nature.

[18]  Joshua M. Korn,et al.  Integrating common and rare genetic variation in diverse human populations , 2010, Nature.

[19]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[20]  Dave A. Thomas,et al.  Pipelines , 2003, IEEE Softw..

[21]  S. Sano.  Royal Children's Hospital , 1974 .