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5 Cards in this Set

  • Front
  • Back

Define Genomics

The global study of how biological information is encoded ingenome sequence




(involving genes, genetic variation and regulatory sequences)




and how this information is read out to produce distinct biologicaloutcomes




(gene expression/regulation, cellular identity, phenotypic variation)

How does one obtain a usable reference genome?

Generate primary genome sequence (to chromosomes)




annotate basic functions (of loci, repeat content)




delivery and access (through interactive software)

What are the steps involved in genome assembly?

Generate reads


Find overlapping reads


Assemble reads into Contigs


Join contigs into scaffolds


Join scaffolds into finished sequence



What parts of the genome are annotated?

genes (coding, noncoding, isoforms, expression)


genetic variation (SNPs, CNVs)


sequence conservation


regulatory sequences (promotor, enhancer, insulators)


Epigenetics (chromatin, DNA methylation)

What are the differences between public and private Bioinformatics data?

Public - pre-packaged

Private - in house, unnanotated,