Human Genome Projects

Question 0

De novo mutations

Answer 0

A sequence change that is present for the first time in one family member as a result of a mutation in a germ cell of one of the parents or in the fertilized egg

Question 1

Copy number variants

Answer 1

Sequence that is at least one kilo base in length and polymorphic. Definition may vary depending on source

Question 2

DNA transposon fossils

Answer 2

Specific type of interspersed repeat elements that may or may not encode the proteins necessary for their own replication

Question 3

Exome

Answer 3

The complete exon content of an organism or individual

Question 4

Hierarchical shotgun sequencing approach

Answer 4

Approach where large, overlapping DNA fragments of known location in the human genome were subject to shotgun sequencing. The sequences of these large fragments were then used to determine the sequence of the human genome

Question 5

Interspersed repeats

Answer 5

Specific class of repeat sequences in the human genome that range from 100-3000 base pairs. They consist of LINE, SINE and retrovirus like elements as well as DNA transposon fossils

Question 6

LINES

Answer 6

Long interspersed nuclear elements are a specific type of interspersed repeat element that encode the proteins necessary for their own replication

Question 7

IncRNA

Answer 7

Non protein coding transcripts longer than 200 nucleotides

Question 8

Omics

Answer 8

The suffix omics has been added to many fields to denote studies undertaken on a large or genome wide scale

Question 9

Proband

Answer 9

Individual being studied or reported on. A Proband is usually the first affected individual in a family who brings a genetic disorder to the attention of the medical community

Question 10

Pseudogenes

Answer 10

Defunct genomic loci with sequence similarity to functional protein-coding genes but lacking coding potential due to the presence of disruptive mutations

Question 11

Retrovirus like elements

Answer 11

Specific type of interspersed repeat elements that may or may not encode the proteins necessary for their own replication

Question 12

Segmental duplications

Answer 12

Sequences > 1 kb in length that share 90-98% identity. A segmental duplication can contain interspersed repeat sequences

Question 13

Shotgun sequencing

Answer 13

Approach where the DNA sequence of interest is shredded randomly into numerous small fragments and then individual fragments are sequenced. The sequences of these individual fragments are used to determine the sequence of the original DNA sample

Question 14

SINES

Answer 14

Short interspersed nuclear elements are a specific type of interspersed repeat element that does not encode the proteins necessary for their own replication.

Question 15

Whole genome shotgun sequencing

Answer 15

Approach where a genome of interest is shredded randomly into numerous small fragments and the small fragments are used to determine the sequences of the whole genome