Sequencing Technology

Question 1

Expansion in Genomic Projects

Answer 1

• Complete projects
  are those with
  sequenced and
  aligned genomes
• Incomplete are
  those which have
  been sequenced, but
  not annotated into
  chromosomes etc.

Question 2

SAM File

Answer 2

• SAM files are alignment files
• Created once you align to reference genome
• Each line states where 1 fragment is
• Processed by bioinformatics
• SAM files are read by genome browser software
• Informs us location of each fragment relative to others

Question 3

Monogenic Disorders

Answer 3

• Diseases due to action of single gene-product with major effect
• Typical inheritance patterns:
  o autosomal dominant / recessive, co-dominant or sex-linked
• Examples: Huntington disease, Cystic Fibrosis, Phenylketonuria,
  Duchenne Muscular dystrophy

Question 4

Complex Disorders

Answer 4

• Most common diseases that run in families
• Caused by genetic, environmental & lifestyle factors
• No clear cut patterns of inheritance
• Difficult to predict person’s risk of inheriting / passing on disease
• Examples: Asthma, diabetes, epilepsy, hypertension, manic
  depression, schizophrenia