4.3/4 APPLIED LEC Flashcards
genomics and functional genomics
sequence, compare, interprets whole genomes
FG: when genes are expressed and how their products interact
human genome project stats
took 13 years and 2.7 billion dollars US
completed by the international human genome sequencing consortium
how are complete genomes sequenced?
whole-genome shotgun sequencing approach
Genome is broken up into sets of overlapping fragments that are sequenced
These sequences are then put in order
discoveries that are changing biologists’ thinking about the human genome
- Genes for microRNAs are more common than previously thought. miRNAs (microRNAs) are short non-coding RNAs that regulate gene expression post-transcriptionally.
- Many sequences are Transcripts of Unknown Function (TUFs) because their role in the cell is unknown. scientists don’t know the function of a third of the genes within the genome
Significant insights have come from comparing the human genome to that of other species.
chaperones, unclassified, transcription factors, phosphatases
their make up of the genome
chaperones: 130 genes, 0.8%
transcription factors: 2067, 12%
phosphatases: 230 1.3%
unclassified: 2061, 23.6%
Why Do Humans Have So Few Genes?
Originally thought there would be hundreds of thousands of genes, revealed 21,000
The alternative-splicing hypothesis proposes that eukaryotes do not require large numbers of distinct genes.
Comparison of Chimpanzee & Human genes
They are 98.8% similar
- Most protein-coding sequences are similar, the differences in the genome are found in the regulatory sequences.
- Differences in how the protein-coding genes are regulated may be responsible for the phenotypic differences seen in chimpanzees & humans.
Dr. Tallulah Andrews
undergrad studies in Computational Biology/ Bioinformatics at mac
worked for wellcome sanger institute - has higher speed research (complete in 4 months vs 1 1/2 years)
research has focused upon on the analysis of single-cell RNASeq data
understanding genomics and cancer
Human Genome Project has revealed common sets of genes that are mutated in cancerous cells. >120 distinct mutations may be involved
The complete genome sequences of cancerous & noncancerous cells from the same person identified over 600 mutations in the cancerous cells
genome canada
regional, national, and international genome projects in Canada
Since 2000, it has overseen 127 projects & >$1.8 billion in grants
eg: how genetic makeup affects the response to pharmaceutical drugs