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|Interface||Web user interface|
|Restrictions to use||None|
|Input data||The SNPs/InDels calling results, which are generated by SNPs/InDels calling tools.|
|Programming languages||Perl, PHP|
Publication for Exome-assistant
A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia
[…] the Burrows–Wheeler Aligner to identify insertions and deletions (InDels) using the genome analysis toolkit program. The identified single-nucleotide polymorphisms and InDels were annotated using the Exome-assistant program (http://184.108.40.206/exomeassistant). The MagicViewer software was used to view the short-read alignments and validate the candidate single-nucleotide polymorphisms and InDe […]
Whole exome sequencing identifies USH2A mutations in a pseudo dominant Usher syndrome family
[…] ified SNPs, were analyzed using the Picard software and SOAPsnp program, respectively. Variants of the Indels were identified using the GATK program. All the identified variants were annotated by the exome-assistant program (). In addition, the variants with a frequency >1% were removed and the SIFT (http://sift.jcvi.org/www/SIFT_enst_submit.html), PolyPhen (http://genetics.bwh.harvard.edu/pph2/) […]
Identification of Three Novel Mutations in the FRMD7 Gene for X linked Idiopathic Congenital Nystagmus
[…] utadapt (http://code.google.com/p/cutadapt/), SOAP aligner, BWA and GATK programs to retrieve and align to identify SNPs and insertions or deletions (InDels). SNPs and InDels were annotated using the exome-assistant program (http://220.127.116.11/exomeassistant). We selected the CASK gene (NM_001126054) for the mutation survey. […]
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