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BIOMART




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BIOMART
• Developed jointly by EBI & CSHL
• BioMart is a search engine that can
  find multiple terms and put them
  into a table format.
• Such as: human gene (IDs),
  chromosome and base pair position
• No programming required!


                                        2 of 38
BIOMART
• A wide variety of analyses and
  tasks:
SNP (single nucleotide
  polymorphism)
selection for candidate gene
  screening
microarray annotation
recovery of disease links, sequence
  variations and expression patterns
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General or Specific Data-Tables

• All the genes for one species

• Or… only genes on one specific
  region of a chromosome

• Or… genes on one region of a
  chromosome associated with a
  disease

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BioMart Data Sets
•   Ensembl genes
•   Vega genes
•   SNPs
•   Markers
•   Phenotypes
•   Gene expression information
•   Gene ontology
•   Homology predictions
•   Protein annotation
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Web Interface




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Simple Text-based
  Search Engine




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‘Mouse Gene’ Gives Us Results




                                8 of 38
A More Complex Query is Not as
           Useful




                                 9 of 38
BioMart Walkthrough
• Glucose-6-phosphate dehydrogenase
  (G6PD) human gene located on
  chromosome X in cytogenetic band q28.
• Which are the other genes in relevance
  to human diseases locate to the same
  band?
• Find out their Ensembl Gene IDs and
  Entrez Gene IDs?
• And also find out their cDNA
  sequences?

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Information Flow
• Choose the species of interest
  (Dataset)
• Decide what you would like to know
  about the genes (Attributes)
  (sequences, IDs, description…)
• Decide on a smaller geneset using
  Filters.
  (enter IDs, choose a region …)


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Choose „Ensemble
Genes 66‟as a
primary database




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Choose „Homo
sapiens‟ as the
species of
interest




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On the left narrow the
                        gene set by clicking
                        “Filters”. In front of
                        “REGION”, click on the “+”
                        to expand the choices.




Filters: what we know



                                                     14 of 38
Select
  “Chromosome
  X”




Select “Band
Start q28” and
“End q28”




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Expand the “GENE”
panel.




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Limit to genes
with MIM
disease ID’.
These
associations
have been
determined
using MIM
(Online
Mendelian
Inheritance in
Man).




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The filters have
determined our gene set.
Click „Count‟ to see how
many genes have passed
these filters.




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The „Count‟
  results show 26
  human genes out
  of 56478 total
  genes passed the
  filters.


Click on „Attributes‟ to
select output options (i.e.
what we would like to
know about our gene
set).




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Expand the „GENE‟
panel.




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Select, along with the default
                                   options, „Associated Gene
                                   name‟ (this shows the gene
                                   symbol from HGNC).
Note the summary of selected
options. The order of attributes
determines the order of
columns in the result table.                                        21 of 38
Expand the „EXTERNAL’
panel to select External
References.


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Select „EntrezGene ID‟ and
„Mim Morbid Accession‟
and„MIM Morbid
Description‟.




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Click „RESULTS‟
to preview the
output.




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To save a file of
                           the complete
                           table, click „Go‟.

Go back and change
Filters or Attributes if
desired. Or, View ALL
rows as HTML…




                                          25 of 38
Result




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Select ‟Sequences‟
                             and then expand the
                             „SEQUENCES‟ section.



To view sequences, go back
to „Attributes‟




                                                    27 of 38
Expand
                        the
                        „SEQUEN
                        CES‟
                        panel and
                        select
                        cDNA
                        sequences



Expand the „Header
Information‟ section.
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Choose „Ensembl
Gene ID‟, „Associated
Gene
Name‟, „Chromosome‟,
and „Ensembl
Transcript ID‟

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Click „Results‟




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Many BioMarts have now been
installed by external groups, in
large part because of its
automated deployment tools and
compatibility   cross   different
platforms. Some of the groups
are model organism databases
such as Gramene, Dictybase,
Wormbase, HapMap variation.

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Central Server




www.biomart.org


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WormBase




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HapMap




Population
frequencies


Inter-
population
comparisons


Gene
annotation

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DictyBase




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Uniprot, MSD




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GRAMENE




Rice, Maize, Arabidopsis genomes…
                                    38 of 38
Thanks




         39 of 38

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