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Tal

http://www.gersteinlab.org/

ENCODE










Databases Data Mining Visualization
and Curation.
Transcriptomics, Alternative Splicing
and Gene prediction.
Sequencing Pipeline and Assembly.
Comparative and Evolutionary
Genomics
Epigenomics and Non-coding Genome
Population and personal Genomics


Medsavant: integrated solution for storage,
annotation, filtration, prioritization and visual
inspection of variants. #1000 genome
project; #FORGE consortium 425 individuals

Mendel App

Finding of
Rare
disease
genes


The Genome Institute at Washington
University – Genome Modelling System.
◦
◦
◦
◦

TCGA
ICGC (Int. Cancer Genome Consortium)
1000 genomes project
PCGP (Pediatric Cancer Genome Project)

https://github.com/genome/gms


RNA-seq (RNA Sequencing), also called
"Whole Transcriptome Shotgun
Sequencing" [1] ("WTSS"), is a technology that
uses the capabilities of next-generation
sequencing to reveal a snapshot of RNA
presence and quantity from a genome at a
given moment in time.[2]


Mario Stanke at Institute of Mathematics and
computer science, Germany
◦ Synteny based approach in gene prediction



Method for isolating Ribosome bound mRNA
◦ Tufts University, Boston, MA.
◦ Specifically can tell which mRNAs are actually
translated.


Data Analysis and coordination center
(DACC).
◦ For HMP data analysis
◦ CloVR virtual machine
◦ http://www.Hmpdacc.org/tools_protocols/tools_pr
otocols.php



In silico genome subtraction tool
◦ MGC (Microbial Genome Comparison tool) – A stand
alone Java package


Studying co-expression network with micrarrays and RNAseq
◦ 3320 microarray experiments vs 813 RNAseq
samples with 8 datasets
 Major biological difference
 Hundreds and thousands of samples necessary to
build a robust RNAseq dataset
 RNAseq co-expression analysis necessary.


RNAseq Analysis pipeline using Ion Torrent
data.
◦ Tophat-cufflink
◦ STAR-cufflink
◦ TMAP-cufflink
Expression levels are zero for STAR, TMAP aligners

•Dobin A, Davis CA, Schlesinger F, Drenkow J, Zaleski C, Jha S, Batut P,
Chaisson M, Gingeras TR: STAR: ultrafast universal RNA-seq aligner.
Bioinformatics 2013, 29:15-21. PubMed Abstract | Publisher Full Text
Return to text
•TMAP is a short read aligner specifically tuned for data from the Ion
Torrent PGM
•FPKM vs RSEM and cufflink
•Lior Pachter @lpachter1 Nov
@konrad_jk @tuuliel @joe_pickrell
@yarbsalocin I'm sure RSEM,
Sailfish, and many other tools can
handle it as well.
•http://liorpachter.wordpress.com
/seq/

RNAseq
Mortazavi, A., Williams,
B.A., McCue, K., Schaeffer,
L. & Wold, B. Mapping and
quantifying mammalian
transcriptomes by RNAseq. Nat. Methods 5, 621–
628 (2008).
ICEseq










Trapnell C, Hendrickson DG, Sauvageau M, Goff L, Rinn JL,
Pachter L. Differential analysis of gene regulation at transcript
resolution with RNA-seq. Nat Biotechnol. 2013 Jan;31(1):46-53.
doi: 10.1038/nbt.2450. Epub 2012 Dec 9. PubMed PMID:
23222703.
Trapnell, C. et al. Transcript assembly and quantification by
RNA-seq reveals unannotated transcripts and isoform switching
during cell differentiation. Nat. Biotechnol. 28, 511–515(2010).
Dissects the difference between a gene and a transcript –
emphasizes on differential expression in isoform in a given
condition.
RPKM vs FPKM
(# of mapped reads)/(length of transcript in kilo base)/(million)
(# of fragments)/(length of transcript in kilo base)/(million)
•rsem-prepare-reference
•rsem-calculate-expression
SAILFISH

Sailfish: Alignment-free Isoform
Quantification from RNA-seq Reads using
Lightweight Algorithms
bio.math.berkeley.edu/eXpress/simdata

RSEM or
eXPRESS


A -> I editing ->
sequenced as Guanine

◦ Mapping to genome may
correct this, but how to
distinguish this from
SNP?





Adapted ICE (Inosine
Chemical Erasing)
using Cyanoethylation.
Computational
pipeline to analyze
this.
IICB features in Omics map…

www.omicsmaps.com
We created a virtual
machine…..

Akash Gupta
Arijit Panda

Subhadeep Das
Neha Sanghi

Madhu C.
Deeksha Singh
Arpita Ghorai

http://front.math.ucdavis.edu/
arXiv

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26 nov2013seminar

  • 1.
  • 3.
  • 4.       Databases Data Mining Visualization and Curation. Transcriptomics, Alternative Splicing and Gene prediction. Sequencing Pipeline and Assembly. Comparative and Evolutionary Genomics Epigenomics and Non-coding Genome Population and personal Genomics
  • 5.  Medsavant: integrated solution for storage, annotation, filtration, prioritization and visual inspection of variants. #1000 genome project; #FORGE consortium 425 individuals Mendel App Finding of Rare disease genes
  • 6.  The Genome Institute at Washington University – Genome Modelling System. ◦ ◦ ◦ ◦ TCGA ICGC (Int. Cancer Genome Consortium) 1000 genomes project PCGP (Pediatric Cancer Genome Project) https://github.com/genome/gms
  • 7.  RNA-seq (RNA Sequencing), also called "Whole Transcriptome Shotgun Sequencing" [1] ("WTSS"), is a technology that uses the capabilities of next-generation sequencing to reveal a snapshot of RNA presence and quantity from a genome at a given moment in time.[2]
  • 8.  Mario Stanke at Institute of Mathematics and computer science, Germany ◦ Synteny based approach in gene prediction  Method for isolating Ribosome bound mRNA ◦ Tufts University, Boston, MA. ◦ Specifically can tell which mRNAs are actually translated.
  • 9.  Data Analysis and coordination center (DACC). ◦ For HMP data analysis ◦ CloVR virtual machine ◦ http://www.Hmpdacc.org/tools_protocols/tools_pr otocols.php  In silico genome subtraction tool ◦ MGC (Microbial Genome Comparison tool) – A stand alone Java package
  • 10.  Studying co-expression network with micrarrays and RNAseq ◦ 3320 microarray experiments vs 813 RNAseq samples with 8 datasets  Major biological difference  Hundreds and thousands of samples necessary to build a robust RNAseq dataset  RNAseq co-expression analysis necessary.
  • 11.  RNAseq Analysis pipeline using Ion Torrent data. ◦ Tophat-cufflink ◦ STAR-cufflink ◦ TMAP-cufflink Expression levels are zero for STAR, TMAP aligners •Dobin A, Davis CA, Schlesinger F, Drenkow J, Zaleski C, Jha S, Batut P, Chaisson M, Gingeras TR: STAR: ultrafast universal RNA-seq aligner. Bioinformatics 2013, 29:15-21. PubMed Abstract | Publisher Full Text Return to text •TMAP is a short read aligner specifically tuned for data from the Ion Torrent PGM
  • 12. •FPKM vs RSEM and cufflink •Lior Pachter @lpachter1 Nov @konrad_jk @tuuliel @joe_pickrell @yarbsalocin I'm sure RSEM, Sailfish, and many other tools can handle it as well. •http://liorpachter.wordpress.com /seq/ RNAseq Mortazavi, A., Williams, B.A., McCue, K., Schaeffer, L. & Wold, B. Mapping and quantifying mammalian transcriptomes by RNAseq. Nat. Methods 5, 621– 628 (2008). ICEseq
  • 13.       Trapnell C, Hendrickson DG, Sauvageau M, Goff L, Rinn JL, Pachter L. Differential analysis of gene regulation at transcript resolution with RNA-seq. Nat Biotechnol. 2013 Jan;31(1):46-53. doi: 10.1038/nbt.2450. Epub 2012 Dec 9. PubMed PMID: 23222703. Trapnell, C. et al. Transcript assembly and quantification by RNA-seq reveals unannotated transcripts and isoform switching during cell differentiation. Nat. Biotechnol. 28, 511–515(2010). Dissects the difference between a gene and a transcript – emphasizes on differential expression in isoform in a given condition. RPKM vs FPKM (# of mapped reads)/(length of transcript in kilo base)/(million) (# of fragments)/(length of transcript in kilo base)/(million)
  • 15. SAILFISH Sailfish: Alignment-free Isoform Quantification from RNA-seq Reads using Lightweight Algorithms bio.math.berkeley.edu/eXpress/simdata RSEM or eXPRESS
  • 16.  A -> I editing -> sequenced as Guanine ◦ Mapping to genome may correct this, but how to distinguish this from SNP?   Adapted ICE (Inosine Chemical Erasing) using Cyanoethylation. Computational pipeline to analyze this.
  • 17. IICB features in Omics map… www.omicsmaps.com
  • 18.
  • 19.
  • 20. We created a virtual machine….. Akash Gupta Arijit Panda Subhadeep Das Neha Sanghi Madhu C. Deeksha Singh Arpita Ghorai http://front.math.ucdavis.edu/ arXiv