Tag: Single-nucleotide Variations

IntSplice 1.1 – Prediction of the Splicing Consequences of Intronic Single-nucleotide Variations in the Human Genome

IntSplice 1.1

:: DESCRIPTION

IntSplice is a tool to predict a splicing consequence of an SNV at intron positions -50 to -3 close the 3’ end of an intron of the human genome.

::DEVELOPER

IntSplice team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Web browser

:: DOWNLOAD

 NO

:: MORE INFORMATION

Citation

IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome.
Shibata A, Okuno T, Rahman MA, Azuma Y, Takeda JI, Masuda A, Selcen D, Engel AG, Ohno K.
J Hum Genet. 2016 Mar 24. doi: 10.1038/jhg.2016.23.

BioMuta 4.0 – Single-nucleotide Variations (SNVs) in Cancer

BioMuta 4.0

:: DESCRIPTION

BioMuta is a single-nucleotide variation (SNV) and disease association database where variations are mapped to genomes and RefSeq nucleotide entries, and unified through UniProtKB/Swiss-Prot positional coordinates.

::DEVELOPER

High-performance Integrated Virtual Environment (HIVE)

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Web browser

:: DOWNLOAD

 NO

:: MORE INFORMATION

Citation

Database (Oxford). 2014 Mar 25;2014:bau022. doi: 10.1093/database/bau022. Print 2014.
A framework for organizing cancer-related variations from existing databases, publications and NGS data using a High-performance Integrated Virtual Environment (HIVE).
Wu TJ1, Shamsaddini A, Pan Y, Smith K, Crichton DJ, Simonyan V, Mazumder R.