L22: Why the human genome?

• The genome was sequenced to identify all human genes and their functions. To analyze the genetic variation between humans. To sequence the genomes of several model organisms and to develop new sequence techniques
• Genome is a complete set of DNA
• genometics is the study of genomes
• Nuclear DNA and mitochondrial DNA

  A) AUTOSOMES

  B) X

  C) Y

  D) SINGLE, CIRCULAR

  E) 6

  F) BASE PAIRS

  G) HALF

  H) <

  I) 16569

  J) MOTHER

  K) 37

  
• A gene is a specific sequence of nucleotides in DNA or rna that encodes for synthesis of a functional product called protein.
• Key findings of a human genome include, fewer genes than expected. There is less than 2% of genome codes for proteins. The genome is dynamic. Most human ghenes are related to animals. And all humans are 99.99% similar at sequence
• Protein coding proetins is less than 2% of the human genome. The remaining are introns, regulatory sequences, etc
• Even at 99.9% similar, there is still lots of variation
• Our genomes are 0.1% different because of genetic variation at sites that commonly vary within populations. (single nucleotide morphism)
• SNP are common in single base pair. There is 1 every 300 nucleotides and mostly in parents.
• Each genome sequenced adds to variation on record
• diversity in genome tools means more knowledge
• SNP are inherited variations
• Analysing common variations can tell us who we are related to, where ancestors are from, diseases, risks, and muscle types
• linked SNPs are outside of the gene. There is no effect on protein production or function
• Causative SNP are non-coding and coding SNP
• non coding snp changes the amount of protein produced
• coding snp changes amino acid sequence
• Inbels are small insertions or deletions. they are the 2nd most common variant type.
• One of the most common human genetic diseases is cystic fibrosis caued by CFTRdeltaF508, which is a 3 nucleotide deletion . this can cause a frame shift
• Structural variants are a copy number of variations present at different amounts relative to a reference genome
• structural variants can be duplicated or deleted. they can have multiple genes. humans have 10,000 CNV and many genes found in them are associated with the sensory perception