Genetics Ch. 14 - Genomes

genome

___________ refers to all the DNA in a haploid set of chromosomes

expressed sequence tag (EST)

_________ are cDNAs made from the mRNAs in a cell type that is abnormal in a particular illness.

expression

Expressed sequence tags represent gene ________

Copy number variants (CNV)

By including only unique sequences in the sites of overlap used to assemble sequenced pieces into longer ones, ____________________ were not detected by the human genome project.

repeats

Whole-genome shotgunning is faster, but it misses the _____ that the clone-by-clone method detects.

DNA microarray

In the context of the genome project, what did researchers begin to use to display short DNA molecules that bind their DNA or mRNA complements?

clone-by-clone

Two general approaches were used to derive the sequence of the human genome. The ____________ technique was used by the US government-funded group and aligned DNA pieces one chromosome at a time.

whole-genome

the _______________ shot gun approach shattered the entire genome, then used an algorithm to identify and align overlaps in a continuous sequence

most common; many

A reference genome sequence is a digital DNA sequence assembled from the ______ base at each point in ______ sequenced genomes.

28

In the context of coverage, at least _____ genome copies are necessary to ensure that most sequences are represented in the final sequence of the human genome.

more

Sequencing genomes provides much _____ information than sequencing exomes

SNPs

Analysis of the results of the first three humans to have their genomes sequenced indicates that about 0.07% of _____ may affect our phenotypes

cis

In the context of exome sequencing arrays, the _____ configuration indicates linkage, which is important in predicting transmission of a genotype to offspring.

annotations

descriptions of what genes do, and what the significance of a particular gene variant is likely to be.

trisomies, introns, triplet

Genome sequencing is unable to detect repeats without additional types of tests because having multiples of a sequence does not alter the sequence, therefore, they cannot detect extra chromosomes of _______, deletions, exons burried within highly repeated ______, CNVs, or ______ repeat mutations

exome sequencing array

________________must be designed to distinguish between pairs of SNPs on the same homologous chromosomes or on different homologs.

connectomes (interactomes)

A limitation of exome and genome sequencing is that computational tools will be needed to sort out networks of interacting genes, sometimes called _________

consumer

Since 2008, ________ genetic testing has been available to those without medical expertise, to test for disease-causing mutations as well as variants that indicate possible risk for disease.

annotation

The _______ of a gene may include: The normal function of a gene, Classification of variant, such as possibly benign or pathogenic, Mode of inheritance, Frequency of a variant in a particular population, and Genotype

uniparental disomy

Exome and genome sequencing are blind to _____________, the rare situation in which a child inherits two alleles of a gene from one parent rather than one from each.

expressivity, epistasis, heterogenity, epigenetics

A DNA test alone is not sufficient for diagnosis because of: incomplete penetrance, variable _________ (different severities in different individuals), __________ (gene-gene interactions), genetic ____________ (mutation in more than one gene causing a phenotype), and ___________ (environmental influences

genomic

________ sequencing involves more than an exome but less than a full genome

whole genomic

___________ sequencing involves entire genomes derived from many overlapped copies

mutations

Genome sequences have revealed that ____________ are more than 50 times more likely to arise at the sites of crossovers than elsewhere in the genome.

increases

Genomic studies in Iceland have shown that the frequency of crossing over __________ with maternal age

life, vaccine

Applications of creating synthetic genomes may provide slues as to how ________ began and provide the ability to design simple microorganisms to assist with energy, drug, or _________ production