Volume 13 Supplement 6

Proceedings of the Second Annual RECOMB Satellite Workshop on Massively Parallel Sequencing (RECOMB-seq 2012)


Edited by Paul Medvedev and Eleazar Eskin

Second Annual RECOMB Satellite Workshop on Massively Parallel Sequencing. Go to conference site.

Barcelona, Spain

19-20 April 2012

  1. Proceedings

    Exploiting sparseness in de novo genome assembly

    The very large memory requirements for the construction of assembly graphs for de novo genome assembly limit current algorithms to super-computing environments.

    Chengxi Ye, Zhanshan Sam Ma, Charles H Cannon, Mihai Pop and Douglas W Yu

    BMC Bioinformatics 2012 13(Suppl 6):S1

    Published on: 19 April 2012

  2. Proceedings

    Haplotype reconstruction using perfect phylogeny and sequence data

    Haplotype phasing is a well studied problem in the context of genotype data. With the recent developments in high-throughput sequencing, new algorithms are needed for haplotype phasing, when the number of samp...

    Anatoly Efros and Eran Halperin

    BMC Bioinformatics 2012 13(Suppl 6):S3

    Published on: 19 April 2012

  3. Proceedings

    KIS SPLICE: de-novo calling alternative splicing events from RNA-seq data

    In this paper, we address the problem of identifying and quantifying polymorphisms in RNA-seq data when no reference genome is available, without assembling the full transcripts. Based on the fundamental idea ...

    Gustavo AT Sacomoto, Janice Kielbassa, Rayan Chikhi, Raluca Uricaru, Pavlos Antoniou, Marie-France Sagot, Pierre Peterlongo and Vincent Lacroix

    BMC Bioinformatics 2012 13(Suppl 6):S5

    Published on: 19 April 2012

  4. Proceedings

    PAIR: polymorphic Alu insertion recognition

    Alu polymorphisms are some of the most common polymorphisms in the genome, yet few methods have been developed for their detection.

    Jón Ingi Sveinbjörnsson and Bjarni V Halldórsson

    BMC Bioinformatics 2012 13(Suppl 6):S7

    Published on: 19 April 2012

  5. Proceedings

    High-resolution genetic mapping with pooled sequencing

    Modern genetics has been transformed by high-throughput sequencing. New experimental designs in model organisms involve analyzing many individuals, pooled and sequenced in groups for increased efficiency. Howe...

    Matthew D Edwards and David K Gifford

    BMC Bioinformatics 2012 13(Suppl 6):S8

    Published on: 19 April 2012

  6. Proceedings

    Reconstructing cancer genomes from paired-end sequencing data

    A cancer genome is derived from the germline genome through a series of somatic mutations. Somatic structural variants - including duplications, deletions, inversions, translocations, and other rearrangements ...

    Layla Oesper, Anna Ritz, Sarah J Aerni, Ryan Drebin and Benjamin J Raphael

    BMC Bioinformatics 2012 13(Suppl 6):S10

    Published on: 19 April 2012