Front Matter

Exome sequencing

Exons

Exome

Transcription, elimination

of intron transcript

segments, and splicing

of exons

Figure 1.13 Illustration showing how the
exomes are assembled and exome
sequencing is carried out. Only ~1% of
human genomes contain exons. In exome
sequencing all the exons are joined
together into one large assembled format
and then sequenced. The exome represents
all the genes that direct the production of
thousands of proteins. Source: https://
d2gne97vdumgn3.cloudfront.net/api/file/
AuHulxYbQ46mPuuqdJ6H.

Figure 1.14 Various malformations resulting from teratogenic agents, including unique
malformations that are organ specific. Among these are malformations caused by
exposure to thalidomide. One does not see any of these types of mutations in ASD children.
Source: Adapted from http://www.thalidomide.ca/recognition‐of‐thalidomide‐defects/;
http://www.merckmanuals.com/professional/pediatrics/congenital‐craniofacial‐and‐
musculoskeletal‐abnormalities/common‐congenital‐limb‐defects; http://www.dailymail.
co.uk/news/article‐2198015/Paralympic‐swimmers‐incredible‐journey‐Iraqi‐orphanage‐
London‐2012‐Australia.html; and https://www.researchgate.net/figure/26760442_fig6_
FIGURE‐6‐Mirror‐hand‐attributed‐to‐ZPA‐cells‐in‐the‐anterior‐limb‐margin‐and. http://
keywordsuggest.org/gallery/573175.html