Match each term with its description or main characteristic(s). A. Seguencing by repication of ONA by DNLA polymerase and delection of the incorporation of Sanger dNTPe inte the groweg DNA chain B. Identilying the genome of a novel (ie for the frst time) beganism nbere no raferense gensme. is avaluble far mapping C. Herkable changes in gene acsivy caused by mechanisms other than DNA sequnca changes: D. A peivate inscoustoc that pioneered (and competed with Nit) the sequencing af Human Genome Project which was "completed" in 2001 C. A subset of repions of inerest are sequenced ts acheve much higher ceverage than achiered in WGS 6. Uied in lilumaina SBS technology to detect wach base as at is incorporatid into ONA. Their use mininizes incerperation tas and greatly reduces raw anger rates compared to ether technoldgies v Multipiexing C. In mutplexed Berades, missssignment of reado to the leraries. V Index hopping 14. Unicue barcoce sequences can be added to each Deci fragment se that each read eas then be liset esed and sorted by these unique sequences. This olloss a large number of samples io WaS be pealed and sequeeced simulaneously in a single sequanchg nin. Exome sequencing sesuencing of the entien gthame of as organism. - De novo sequencing 5. In ordec to idecsty the regions of ONA that a transcripton factor tinds to. a chronath Byesenciecpilasea is done io pull down the proteh of intarest and any bound bNA regiont. - v Contig folened by kos of these ONe tragments. K Segjesdiag depth can be selected to detect loe frequency mutafons mithin a mixed cel * Targeted sequencing pobdiain er to detect high frequency geneme mide variacts - Eplgenetics C. Chan aermination method of ONA sequences kented h 197 . W ieles an 5 . deacy reciesedeb bhesphates (deNTPa) to lerrinale chain elengation and the readout of the * v Methylation sequencing ienshe of these terminated hagments on a get * ChP sequencing edepter foetos. Taese adapter legted tregments are PCR ampetied and gel purifed 1. Cnebles mece accurata read algament and the ablity to deted indels Allos the allynment plocritere to ule the informaton about diatance betiretn these shert sequences P. A centiguous segrent of ONA cosstructed tom overlapeing reads a Irvestigatso of Cpiosine methylation states. Cytotin methylafion in promster and heteroctiomatin regese can zigrificanty athe gene regulation Match each term with its description or main char Sanger Celera Library prepration SBS Reversible terminators Paired-end sequencing Tunable coverage Multiplexing Index hopping WGS Exome sequencing De novo sequencing Contig Targeted sequencing Epigenetics Methylation sequencing ChIP sequencing A. Sequencing by replication of DNA by DNA polymerase and detection of the incorporation of dNTPs into the growing DNA chain. B. Identifiying the genome of a novel (ie. for the first time) organism where no reference genome is available for mapping. C. Heritable changes in gene activity caused by mechanisms other tha.

1. Match each term with its description or main characteristic(s). A. Seguencing by repication of
ONA by DNLA polymerase and delection of the incorporation of Sanger dNTPe inte the groweg
DNA chain B. Identilying the genome of a novel (ie for the frst time) beganism nbere no
raferense gensme. is avaluble far mapping C. Herkable changes in gene acsivy caused by
mechanisms other than DNA sequnca changes: D. A peivate inscoustoc that pioneered (and
competed with Nit) the sequencing af Human Genome Project which was "completed" in 2001
C. A subset of repions of inerest are sequenced ts acheve much higher ceverage than achiered in
WGS 6. Uied in lilumaina SBS technology to detect wach base as at is incorporatid into ONA.
Their use mininizes incerperation tas and greatly reduces raw anger rates compared to ether
technoldgies v Multipiexing C. In mutplexed Berades, missssignment of reado to the leraries. V
Index hopping 14. Unicue barcoce sequences can be added to each Deci fragment se that each
read eas then be liset esed and sorted by these unique sequences. This olloss a large number of
samples io WaS be pealed and sequeeced simulaneously in a single sequanchg nin. Exome
sequencing sesuencing of the entien gthame of as organism. - De novo sequencing 5. In ordec to
idecsty the regions of ONA that a transcripton factor tinds to. a chronath Byesenciecpilasea is
done io pull down the proteh of intarest and any bound bNA regiont. - v Contig folened by kos of
these ONe tragments. K Segjesdiag depth can be selected to detect loe frequency mutafons
mithin a mixed cel * Targeted sequencing pobdiain er to detect high frequency geneme mide
variacts - Eplgenetics C. Chan aermination method of ONA sequences kented h 197 . W ieles an
5 . deacy reciesedeb bhesphates (deNTPa) to lerrinale chain elengation and the readout of the * v
Methylation sequencing ienshe of these terminated hagments on a get * ChP sequencing edepter
foetos. Taese adapter legted tregments are PCR ampetied and gel purifed 1. Cnebles mece
accurata read algament and the ablity to deted indels Allos the allynment plocritere to ule the
informaton about diatance betiretn these shert sequences P. A centiguous segrent of ONA
cosstructed tom overlapeing reads a Irvestigatso of Cpiosine methylation states. Cytotin
methylafion in promster and heteroctiomatin regese can zigrificanty athe gene regulation Match
each term with its description or main char Sanger Celera Library prepration SBS Reversible
terminators Paired-end sequencing Tunable coverage Multiplexing Index hopping WGS Exome
sequencing De novo sequencing Contig Targeted sequencing Epigenetics Methylation
sequencing ChIP sequencing A. Sequencing by replication of DNA by DNA polymerase and
detection of the incorporation of dNTPs into the growing DNA chain. B. Identifiying the genome
of a novel (ie. for the first time) organism where no reference genome is available for mapping.
C. Heritable changes in gene activity caused by mechanisms other than DNA sequence changes.
D. A private institution that pioneered (and competed with NIH ) the sequencing of Human
Genome Project, which was "completed" in 2001. E. A subset of regions of interest are
sequenced to achieve much higher coverage than achieved in WGS. F. Used in Illumina SBS
technology to detect each base as it is incorporated into DNA. Their use minimizes incorporation
bias and greatly reduces raw error rates compared to other technologies. G. In multiplexed
libraries, missassignment of reads to the libraries. H. Unique barcode sequences can be added to
each DNA fragment so that each read can then be identified and sorted by these unique
sequences. This allows a large number of samples to be pooled and sequenced simultaneously in
a single sequencing run. 1. Sequencing of the entire genome of an organism. J. In order to
identify the regions of DNA that a transcription factor binds to, a chromatin immunoprecipitation
is done to pull down the protein of interest and any bound DNA regions, followed by NGS of
these DNA fragments. K. Sequencing depth can be selected to detect low-frequency mutations
within a mixed cell population or to detect high frequency genome-wide variants. L. Chain

2. termination method of DNA sequences invented in 1977. It relies on
dideoxynucleotidetriphosphates (ddNTPs) to terminate chain elongation and the read-out of the
lengths of these terminated fragments on a gel. M. A step of the next generation sequencing
workflow including fragmentation of DNA and 3 adapter ligation. These adapter ligted
fragments are PCR amplified and gel purified. N. Enables more accurate read alignment and the
ability to detect indels. Allows the alignment algorithms to use the information about distance
between these short sequences. O. Protein-coding portion of the genome is selectively captured
and sequenced. This represents about 2% of the human genome, but contains most of the known
disease-causing variants. P. A contiguous segment of DNA constructed from overlapping reads.
Q. Investigation of Cytosine methylation states. Cytosin methylation in promotor and
heterochromatin regions can significantly affect gene regulation.