Genomics Vocab

Question 1

Halotype

Answer 1

a set of DNA variants along the single chromosome that tend to be inherited together

Question 2

Heterozygosity

Answer 2

having different alleles for a particular trait. Two different alleles of a SNP by an individual.

Question 3

Autosomal

Answer 3

gene located on one of the numbered or non-sex chromosomes

Question 4

SNPs

Answer 4

these are single nucleotide polymorphisms which represent a difference in a single DNA building block(nucleotide). Variation at a single base position in the DNA.

Question 5

Serial founders effect

Answer 5

This occurs when populations migrate over long distances, and involve relatively rapid movements followed by periods of settlement. The population in the migration carry only a subset of genetic diversity carried from previous migrations.

Question 5

Microsatellite markers

Answer 5

they are small pieces of DNA that repeat. These provide data for phylogenetic studies that seek to explain concordant biogeographic and genetic histories of large scale regions

Question 5

Principle of component analyses (PCA)

Answer 5

data sets with lots of variables, need to find variables that can be placed into grouping. Technique used to emphasize variation and bring out strong patterns in a dataset.

Question 6

Fixation index(Fst)

Answer 6

measure of population differentiation due to a genetic structure/ measure genetic distance between populations

Question 7

Molecular variance(AMOVA)

Answer 7

analysis of molecular variance to detect population differentiation utilizing molecular markers, it is a statistical method in population genetics and molecular ecology.

Question 8

AlphaMissense

Answer 8

an adaptation of AlphaFold fine-tuned on human and primate variant population frequency data-bases to predict missense variant pathogenicity. It combined structural context and evolutionary conservation to find results across genetic benchmarks

Question 9

Clustering

Answer 9

the goal is to divide the population or set of data points into a number of groups so that the data points within each group are more comparable to one another and different from data points within the other groups

Question 10

Genetic admixture

Answer 10

occurs when previously diverged or isolated genetic lineages mix, results in introduction of new genetic lineages into populations

Question 11

Maximum Likelihood(Ml)

Answer 11

a model used to describe the process that results in the data that are observed

Question 12

Genome Mosaicism

Answer 12

the presence of cells in a person that have a different genome from the body’s other cells. “A population of cells with its own personal genome

Question 13

Mosaicism

Answer 13

can arise due to errors that occur during chromosome segregation or DNA replication leading to chromosome aneuploidy, CNVs, genomic rearrangements, single nucleotide variation, or repeat expansions and microsatellite instabilities.

Question 14

Copy number variants (CNV)

Answer 14

number of copies of a particular gene varies from one individual to the next.
-have been found in clonal isolates of embryonic stem cells

Question 15

Pathological functions

Answer 15

somatic mosaicism of terminally differentiated cells has long been known to cause cancer
-somatic mosaicism of nervous system tissues underlies a host of neurodevelopmental and perhaps neuropsychiatric diseases

Question 16

Mutational heterogeneity

Answer 16

mutations at two or more genetic loci that produce the same or similar phenotypes

Question 18

Uniform model

Answer 18

all genes have same background mutation frequency (BMF)

Question 19

MutSigCV

Answer 19

identifies genes that are significantly mutated in cancer genomes
-by applying to exome sequences from 3083 tumor-normal pairs and discover extraordinary variation in mutation frequency and spectrum within cancer types, which sheds light on mutational processes and disease aetiology and mutations across genome, which is correlated with DNA replication timing and transcriptional activity.
-this is able to eliminate most of the apparent artifactual findings and enable the identification of genes truly associated with cancer.

Question 20

Whole-Exome sequencing

Answer 20

a type of genetic sequencing that requires all the exons in the sequence used to understand what may be causing symptoms or diseases

Question 21

Olfactory receptors

Answer 21

protein capable of binding odor molecules that plays a central role in the sense of smell

Question 22

Titin

Answer 22

a very large protein that provides structure, flexibility, and stability to the cell’s structures.

Question 23

False positive

Answer 23

an incorrect presentation that reads as something being present

Question 24

Deoxynucleotide:

Answer 24

Free 3’OH is needed for ester bond formation during template strand synthesis