Fig. 1 | Scientific Reports

Fig. 1

From: Characterizing the allele-specific gene expression landscape in high hyperdiploid acute lymphoblastic leukemia with BASE

Fig. 1

The BASE workflow is based on whole genome sequencing (WGS) and RNA sequencing (RNA-seq) paired-end fastq files from the same sample. SeqPurge filters the raw sequencing reads, whereas BWA and STAR are used for read alignment. GATK is utilized for single nucleotide variants (SNVs) calling and for determining expressed heterozygous SNV read counts. BASE performs copy number variations (CNV) calling. Finally, ASE genes are identified by integrating heterozygous SNVs read counts and copy number states.

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