NGS data to an answer
3 important questions on NGS data to an answer
What are the steps to get reads and mapping?
- Patiënt DNA
- fragmented DNA
- sequencing
- mapping (reference genome)
- variant calling
What are the three outcomes by variant calling?
- Homozygous reference (ref/ref)
- heterozygous (ref/non-ref)
- homozygous non-reference (non-ref/non-ref)
How do we find the sigle variant that causes the genetic disease? (assuming monogenetic cause)
- Variant already known to cause a disease
- frequency of variant in (healthy) population
- freqeuned variant in population highly likely to not cause teh disease
- inheritance
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