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9 Cards in this Set
- Front
- Back
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what is the difference between synonymous and non synonymous mutations
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syn means same aa seq
non is NEW sequence |
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name one thing that non coding could be important for
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txn or tsn
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compare sanger and deep seq
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sanger needs target but has high accuracy
deep uses entire DNA seq but has higher errors |
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what are two types of deep seq
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WGS and exome
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discuss the steps of dsSNP database collection
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get DNA from affected and unaffected (can be related or not)
sequence stats to rule out non disease causing investigate further |
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a ____ mutation can't be found in parents
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sporadic
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a ____ mutation of affected siblings should share disease allele with one or both parents
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inherited
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what are two diseases we talked about where snSNP helped
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schnizel giedion
charcot marie tooth |
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is giedion inherited or sporadic? charcot marie?
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sporadic
inherited |
