Exome sequencing is an application used to sequence all the protein-coding genes in a genome (exome), generally used to reveal variants across all coding regions. This application can be used to identify rare and common genetic variants that play a role in human diseases.
Our lab provides library preparation on an initial sample. For the process of Exome Sequencing, libraries are prepared from genomic DNA and then exonic regions are pulled down using specifically designed probs.
|Library Preparation Type||Input Material||Min. Amount||Volume||Dilution Buffer|
||gDNA||100 ng||< 10 ul||H2O, or 10 mM Tris-Cl, pH 8.5|
- Sample quality requirements:
Please note that the user is responsible for the quality of each sample. Genomic DNA should be intact. DNA integrity must be confirmed using the Nanodrop, Bioanalyzer, TapeStation, or a similar instrument.
The preliminary analysis from raw datafiles is performed on various platforms such as the Partek Genomics Suite. Further analysis of differentially expressed gene-lists function and pathways is performed using various updated web-based tools. The analysis is generally done on a collaborative basis. For more details, please contact Dr. Metsada Pasmanik-Chor: email@example.com , 03 640 6992.