Identification of potential regulatory mutations by multi-omics analysis and haplotyping of lung adenocarcinoma cell lines

Functional relevance of the mutations occurring in regulatory regions of cancer cell still remains mostly elusive. Here we identified and analyzed regulatory mutations having transcriptional consequences in lung adenocarcinoma-derived cell lines. Using Illumina short read whole genome sequencing as a base, we examined bias in transcriptional allele expression in RNA-seq and regulatory allele expression in Chip-seq by utilizing SNVs tags. We also examined the association between regulatory allele and its transcriptional counterpart(s) by utilizing synthetic long read sequencing from 10x GemCode system. This allowed us to identify 137 regulatory SNVs in 148 Refseq transcripts which are potential play a role in cancer development and progression.