Postdoctoral Position in Genomics and Bioinformatics – Whole genome analysis of autism by nanopopore long read sequencing
A postdoctoral position in genome informatics is available in the Beyster Center for Genomics of Psychiatric Disease and the Institute for Genomic Medicine at UC San Diego. Led by Jonathan Sebat (http://sebatlab.ucsd.edu), the Beyster Center is a leader in the fields of human genome research and psychiatric genetics.
The postdoctoral fellow will carry out research on a new NIH-funded study to apply new sequencing technologies to the identification of the genetic causes of autism. Discoveries from our laboratory have shown that rare Structural Variants (SVs) are strongly associated with autism.
The goals of our current study are:
1) Whole genome sequencing of autism families using a combination of Illumina and Nanopore sequencing platforms
2) Develop novel computational methods for the detection of SVs from long reads.
3) Investigate the contribution of new categories de novo germline mutations and somatic mosaicism to risk for autism. These include rare protein coding mutations and variants that disrupt cis regulatory elements (CRE-SVs).
This study will take advantage of a large patient samples that have been recruited by our clinical research team and deep whole genome sequencing data on patients that are being collected in our laboratory.
The position will work closely with an international collaboration of clinical psychiatrists and geneticists to carry out statistical analysis of deep genetic, psychiatric and health datasets on patients. Required skills include training in bioinfomatics, biostatistics or statistical genetics.