A researcher sequences the whole exome of a patientsuffering from Usher syndrome, a rare autosomal recessive condition that is nonetheless the leading causefor simultaneous deafness and blindness. The exomesequence does not show homozygosity for any polymorphisms different from the human RefSeq.a. How could the researcher examine the data alreadygathered to try to find the disease gene, assumingthe sequence is accurate?b. If the attempt described in part (a) was unsuccessful, the researcher might contemplate sequencingthe patient’s whole genome. What are the potentialpitfalls of this strategy?

Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
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Chapter1: The Human Body: An Orientation
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A researcher sequences the whole exome of a patient
suffering from Usher syndrome, a rare autosomal recessive condition that is nonetheless the leading cause
for simultaneous deafness and blindness. The exome
sequence does not show homozygosity for any polymorphisms different from the human RefSeq.
a. How could the researcher examine the data already
gathered to try to find the disease gene, assuming
the sequence is accurate?
b. If the attempt described in part (a) was unsuccessful, the researcher might contemplate sequencing
the patient’s whole genome. What are the potential
pitfalls of this strategy?

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