According to Dr. Roth, the bottleneck with genome sequencing in terms of personalized
medicine is in:
Interpreting genomes
The cost of sequencing
Sequencing technology is not advanced enough
Not having enough genomes sequenced - Answers Interpreting genomes
The Human Genome Project:
Was created from Craig Venter's DNA alone
Used many cell types
Sequenced several individuals to generate a reference sequence
Was a solely Canadian project - Answers Sequenced several individuals to generate a reference
sequence
The method most likely to be used to test for a pathogenic allele at a well-known location such
as the BRCA1 gene would be:
Whole Genome Sequencing
Whole Exome Sequencing
Genotyping
RNA-sequencing - Answers Genotyping
Oftentimes the result of an experiment is considered statistically significant if the p-value is less
than 0.05 (0.05 is denoted alpha). For GWAS, the significance threshold is set to values more
like 10-7. This is because:
All statistical tests should set alpha to 10-7
, GWAS is a very conservative test
When you are doing so many tests, like with GWAS, the probability of finding a significant result
by chance is very high, so the p-value is adjusted to avoid false negatives
When you are doing so many tests, like with GWAS, the probability of finding a significant result
by chance is very high, so the p-value is adjusted to avoid false positives - Answers When you
are doing so many tests, like with GWAS, the probability of finding a significant result by chance
is very high, so the p-value is adjusted to avoid false positives
The data from GWAS:
Indicate many suggestive loci that are part of the haplotype block associated with the variant
Indicate a locus that is associated with the variant
Reveal the variant that causes disease unambiguously
Indicates rare variants associated with disease - Answers Indicate many suggestive loci that are
part of the haplotype block associated with the variant
Most 'functional variants', as described by Dr. Roth:
Are beneficial
Are not subject to natural selection
Are deleterious
Are neutral - Answers Are deleterious
In a burden of mutation analysis, the mutational make-up of cases and controls is:
Cases: functional mutations, controls: neutral mutations
Cases: neutral mutations, controls: neutral + beneficial mutations
Cases: neutral + functional mutations, controls: neutral mutations
Cases: deleterious mutations, controls: neutral mutations - Answers Cases: neutral + functional
mutations, controls: neutral mutations
Sometimes, expressing the human version of a gene in yeast is sufficient for yeast growth when