Software Tools

 

Human Genome Clinical Annotation Tool, (h-GCAT). h-GCAT is an online tool designed for the analysis of whole exome/genome sequencing data obtained from families affected by genetic disorder(s). Integrated with several important clinical and biological databases, h-GCAT provides the user with a relatively simple and intuitive interface to come down to a manageable gene list from the huge dataset.

SNP evaluation tool. The Genomic Oligoarray and SNP array evaluation tool was developed by Zhijie Jiang and Nick Tsinoremas in the collaboration with Klaas Wierenga at University of Oklahoma. The tool can spot disease causative genes on runs of homozygosity detected by SNP arrays. Currently the tool has 1000 registered users across the world.

BAOSearch.  BAOSearch is a web-based application for querying, viewing, browsing and downloading small molecule biological screening results including high-throughput (HTS) data.  BAOSearch has been developed as part of the NIH funded Bioassay Ontology (BAO) project.   NIH 1RC2HG005668

LIFE.  The LIFE search engine integrates all LINCS content leveraging a semantic knowledge model and common LINCS metadata standards. LIFE makes LINCS content discoverable and includes aggregate results linked to the Harvard Medical School and Broad Institute LINCS centers, which provide more information including experimental conditions and raw data. NIH 1U01HL111561