This application note demonstrates an innovative approach to next-generation sequence assembly and analysis pipeline that will run on a desktop computer and produce a human genome sequence in a reasonable time frame.
SNP-RFLPing 2: an updated and integrated PCR-RFLP tool for SNP genotyping.
BACKGROUND: PCR-restriction fragment length polymorphism (RFLP) assay is a cost-effective method for SNP genotyping and mutation detection, but the manual mining for restriction enzyme sites is challenging and cumbersome. Three years after we constructed SNP-RFLPing, a freely accessible database and analysis tool for restriction enzyme mining of SNPs, significant improvements over the 2006 version have been made and incorporated into the latest version, SNP-RFLPing 2. RESULTS: The primary aim of SNP-RFLPing 2 is to provide comprehensive PCR-RFLP information with multiple functionality about SNPs, such as SNP retrieval to multiple species, different polymorphism types (bi-allelic, tri-allelic, tetra-allelic or indels), gene-centric searching, HapMap tagSNPs, gene ontology-based searching, miRNAs, and SNP500Cancer. The RFLP restriction enzymes and the corresponding PCR primers for the natural and mutagenic types of each SNP are simultaneously analyzed. All the RFLP restriction enzyme prices are also provided to aid selection. Furthermore, the previously encountered updating problems for most SNP related databases are resolved by an on-line retrieval system. CONCLUSIONS: The user interfaces for functional SNP analyses have been substantially improved and integrated. SNP-RFLPing 2 offers a new and user-friendly interface for RFLP genotyping that can be used in association studies and is freely available at http://bio.kuas.edu.tw/snp-rflping2.
PMID: 20377871 [PubMed - in process]

New Tool For Annotating SNVs
Wang, Li, Hakonarson, Nucleic Acids Research
The University of Pennsylvania’s Hakon Hakonarson and his colleagues describe ANNOVAR, a tool that can “annotate single nucleotide variants and insertions/deletions,” and is capable of “examining their functional consequence on genes, inferring cytogenetic bands, reporting functional importance scores, finding variants in conserved regions, or identifying variants reported in the 1,000 Genomes Project and dbSNP,” the authors write. ANNOVAR can be run on a desktop computer, the team reports, and takes only four minutes to perform gene-based annotation and 15 to perform variants reduction on 4.7 million variants, “making it practical to handle hundreds of human genomes in a day.”
The large amounts of EST sequence data available from a
single species of an organism as well as for several species
within a genus provide an easy source of identification of
intra- and interspecies single nucleotide polymorphisms
(SNPs). In the case of model organisms, the data available are
numerous, given the degree of redundancy in the deposited EST
data. There are several available bioinformatics tools that
can be used to mine this data; however, using them requires a
certain level of expertise: the tools have to be used
sequentially with accompanying format conversion and steps
like clustering and assembly of sequences become
time-intensive jobs even for moderately sized datasets. We
report here a pipeline of open source software extended to run
...