28th Annual Student Research Conference
Variants In Phase
Callie P. Federer
Dr. Jon Beck, Faculty Mentor
My research was done for the cancer analysis group at The Genome Institute at Washington University in St. Louis, MO. I created a research tool in order to determine if variants were in phase. Originally I only identified single nucleotide variants (SNVs) which were in phase and then extended it to include indels. The standard for in phase in my tool meant that two variants were found on the same read after DNA Sequencing and then blocks were built up between pairs of phased variants. My tool was written in Java using the Picard library for Bioinformatics.
Keywords: variants, in phase, bioinformatics, Picard, Java
Topic(s):Computer Science
Biology
Presentation Type: Oral Paper
Session: 205-1
Location: MG 1096
Time: 11:00