Abstract：
:How DNA sequence variation influences gene expression remains poorly understood. Diploid organisms have two homologous copies of their DNA sequence in the same nucleus, providing a rich source of information about how genetic variation affects a wealth of biochemical processes. However, few computational methods have been developed to discover allele specific differences in functional genomic data. Existing methods either treat each SNP independently, limiting statistical power, or combine SNPs across gene annotations, preventing the discovery of allele specific differences in unexpected genomic regions. Here we introduce AlleleHMM, a new computational method to identify blocks of neighboring SNPs that share similar allele specific differences in mark abundance. AlleleHMM uses a hidden Markov model to divide the genome into three hidden states based on allele frequencies in genomic data: a symmetric state (state S) which shows no difference between alleles, and regions with a higher signal on the maternal (state M) or paternal (state P) allele. AlleleHMM substantially outperformed naive methods using both simulated and real genomic data, particularly when input data had realistic levels of overdispersion. Using global run-on sequencing (GRO-seq) data, AlleleHMM identified thousands of allele specific blocks of transcription in both coding and non-coding genomic regions. AlleleHMM is a powerful tool for discovering allele specific regions in functional genomic datasets.
journal_name
Nucleic Acids Resjournal_title
Nucleic acids researchauthors
Chou SP,Danko CGdoi
10.1093/nar/gkz176subject
Has Abstractpub_date
2019-06-20 00:00:00pages
e64issue
11eissn
0305-1048issn
1362-4962pii
5421125journal_volume
47pub_type
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