Abstract & Title for talk at Big Data Bioinformatics (May 2016, Boston, MA)
My talk will focus on a variety of topics in personal genomics,
principally on how we interpret and prioritize the many variants in a
personal genome. I will concentrate on rare and somatic variants. I
will discuss a number of ways of getting at the impact of rare
variants including looking for cryptic allosteric sites in coding
regions, analyzing the burdening in non-coding regions, finding
allelic elements differentially affected by variants in paternal and
maternal alleles and using at network connectivity (eg hubs).
Throughout the talk I will highlight a number of practical software
tools that we have developed for this purpose, including:
FunSeq.gersteinlab.org , AlleleDB.gersteinlab.org ,
STRESS.gersteinlab.org and Networks.gersteinlab.org .