Genomic Disorders
Down syndrome is caused by what?
This histone marker is a marker of active enhancers
What is H3K27ac?
These 5 nucleotides makeup the human genome
Guanine, Adenine, Uracil, Cytocine, Thymine
This scientist headed the Human Genome Project and is the current director of the NIH
Who is Francis Collins?
Chromosomal rearrangements, deletions, and duplications accumulate in this disease.
What is cancer?
This classic sequencing method uses chain terminating nucleotides
What is Sanger sequencing?
What are cis-acting elements?
This promoter sequence signifies where transcription begins
What is a TATA box?
This scientist won the 1983 Nobel Prize in Medicine for discovering transposons in corn.
Who is Barbara McClintock?
Turner syndrome results from this chromosomal abnormality
This method of genome assembly, used by private industry to sequence the human genome is now the standard for new assemblies.
What is shotgun sequencing?
Elements that regulate the transcription of distant genes
What are trans-acting elements?
These regions are a major obstacle in generating genome assemblies
What are repetitive regions?
This scientist invented shotgun sequencing, a key tool in the assembly of the human genome.
Who is Fredrick Sanger?
Humans have 46 chromosomes whereas their ancestors have this number.
This genomic process allows the generation of a diverse antibody repertoire from comparatively few genes.
What is VDJ rearrangement?
This assay identifies what areas of the genome are bound to particular proteins
What is ChIP-seq
Approximately 8% of the human genome originates from what?
What are viruses?
These scientists were awarded the 2009 Nobel Prize in Medicine for the discovery of telomeres
Who are Elizabeth H. Blackburn, Carol W. Greider and Jack W. Szostak?
The human genome accumulates approximately this many mutations per generation
What is 64?
This quality of the genomic code makes it more resistant to point mutations
What is degeneracy?
This kind of analysis describes the association of genomic variants with different phenotypes
What is a genome-wide association study?
The 49 genomic regions that are highly conserved in vertebrates, but heavily mutated in humans, are known as?
What are Human Accelerated Regions?
Who is Walther Flemmings?