Speaker: Prof. Steven E. Brenner
              University of California Berkeley 

Host: Prof. Li Yang
         CAS-MPG Partner Institute for Computational Biology 

Time: 10:30-11:30 am, April 5 (Thursday), 2018 

Venue: Room 300, SIBS Main Building, 320 Yueyang Road  

Title: Interpreting Newborn Genomes 

Abstract:
This presentation will cover three projects in interpretation of human genomic variation.   

We have developed an analysis protocol whose distinctive features enabled solving clinical cases. Applied to exomes from newborn patients with undiagnosed primary immune disorders, it helped guide appropriate treatment, family genetic counseling, and avoidance of diagnostic odyssey. 

This inspired a project that explores the feasibility of sequencing to augment or supersede mass spectrometry for pervasive public health newborn screening. 

We sequenced exomes from de-identified dried blood spots of nearly all newborns affected with any metabolic disorder screened by tandem mass-spectroscopy (MS/MS) in California from 2006 to 2013 (around 1300 out of around 4.45 million screened). Our preliminary analysis indicates that several affected individuals lack any obviously damaging mutations in genes responsible for their metabolic disorders. We also found some cases where exomes confidently implicated a disorder different from the original diagnosis by the metabolic center clinician, suggesting that sequencing information would have been valuable for proper clinical diagnoses in some cases. While still not sufficiently specific for screening of all disorders, exomes could facilitate timely and more precise clinical resolution for some disorders.  

To conclude, I will briefly present results from The Critical Assessment of Genome Interpretation (CAGI, \'kā-jē\), a community experiment to objectively assess computational methods for predicting the phenotypic impacts of genomic variation.  

All are welcome!