SVMOneClAS : Pipeline for Efficient Splicing Events Calling

Splicing is a part of mRNA maturation process when exons of pre-mRNA transcript are joined in multiple ways. In case of alternative splicing, some exons may be excluded from the final mRNA, and the resulting ensemble of mRNAs creates different protein isoforms, allowing multiple proteins to be coded by a single gene. To detect new events of alternative splicing in human blood cells, we used RNAseq technology. A pipeline based on Python “Scikit-Learn” library was developed for efficient splicing events calling. We found 8728 potential candidates, 20 of which were selected for RT-PCR and 8 were finally confirmed as novel events in 7 genes (MPPE1, CTDP1, ENOSF1, SEH1L, TXNL4A, C18orf1, and ME2). SVMOneClAS are freely available from the https://github.com/alsokolov-dev/SVMOneClAS

[1]  Steven L Salzberg,et al.  Fast gapped-read alignment with Bowtie 2 , 2012, Nature Methods.

[2]  Vipin T. Sreedharan,et al.  RNA‐Seq Read Alignments with PALMapper , 2010, Current protocols in bioinformatics.

[3]  K. Skryabin,et al.  Individual Genome of the Russian Male: SNP Calling and a de novo Assembly of Unmapped Reads , 2010, Acta naturae.

[4]  F. Lohoff,et al.  Association between polymorphisms in the metallophosphoesterase (MPPE1) gene and bipolar disorder , 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[5]  D. Zaridze,et al.  Combining Two Technologies for Full Genome Sequencing of Human , 2009, Acta naturae.

[6]  Cole Trapnell,et al.  Ultrafast and memory-efficient alignment of short DNA sequences to the human genome , 2009, Genome Biology.

[7]  B. Frey,et al.  Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing , 2008, Nature Genetics.

[8]  Gunnar Rätsch,et al.  Optimal spliced alignments of short sequence reads , 2008, BMC Bioinformatics.

[9]  J. Fackenthal,et al.  Aberrant RNA splicing and its functional consequences in cancer cells , 2008, Disease Models & Mechanisms.

[10]  Gil Ast,et al.  Insights into the connection between cancer and alternative splicing. , 2008, Trends in genetics : TIG.

[11]  R. Skotheim,et al.  Alternative splicing in cancer: noise, functional, or systematic? , 2007, The international journal of biochemistry & cell biology.

[12]  V. Bogdanov Blood coagulation and alternative pre-mRNA splicing: an overview. , 2006, Current molecular medicine.

[13]  L. Kalaydjieva Congenital Cataracts – Facial Dysmorphism – Neuropathy , 2006, Orphanet journal of rare diseases.

[14]  F. Clark,et al.  Understanding alternative splicing: towards a cellular code , 2005, Nature Reviews Molecular Cell Biology.

[15]  S. Moshé,et al.  Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. , 2005, American journal of human genetics.

[16]  Hermona Soreq,et al.  From Brain to Blood: Alternative Splicing Evidence for the Cholinergic Basis of Mammalian Stress Responses , 2004, Annals of the New York Academy of Sciences.

[17]  B. Schölkopf,et al.  Accurate Splice Site Detection for Caenorhabditis elegans , 2004 .

[18]  D. Black Mechanisms of alternative pre-messenger RNA splicing. , 2003, Annual review of biochemistry.

[19]  M. Sudol,et al.  Evidence that dim1 associates with proteins involved in pre-mRNA splicing, and delineation of residues essential for dim1 interactions with hnRNP F and Npw38/PQBP-1. , 2000, Gene.

[20]  E. Benz,et al.  Role of tissue specific alternative pre-mRNA splicing in the differentiation of the erythrocyte membrane. , 1997, Transactions of the American Clinical and Climatological Association.