@article{d60eb30f752545688629d7e0cdd77ce8,
title = "A report on the 2009 SIG on short read sequencing and algorithms (Short-SIG)",
author = "Michael Brudno and Paul Medvedev and Jens Stoye and {De La Vega}, {Francisco M.}",
note = "Funding Information: The advent of high-throughput sequencing has for the first time allowed large, cost-effective studies to detect larger, structural variants. Such variation has been associated with numerous diseases, including autism, schizophrenia and cancer, making their discovery an important challenge for computational biologists. Several talks at the SIG focused on the development of novel methods for discovery of such variants. Kai Ye presented a method called Pindel, which, by anchoring the mates of nonmapping reads to a genomic location, was able to use split-mapping to detect deletion events as large as 10 kb with base-level precision (Ye et al., 2009). This paper was the winner of the best SIG paper award, sponsored by Bioinformatics. Seunghak Lee and Weldon Whitener showed how to detect smaller indels from pair-end data by using the distribution of insert sizes of all matepairs that span each genomic location. Paul Medvedev described a way that the depth-of-coverage signal can be combined with pair-end",
year = "2009",
doi = "10.1093/bioinformatics/btp525",
language = "English (US)",
volume = "25",
pages = "2863--2864",
journal = "Bioinformatics",
issn = "1367-4803",
publisher = "Oxford University Press",
number = "21",
}