User: sak042

gravatar for sak042
sak04210
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10
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New User
Location:
Korea/Seoul/Yonsei University College of Medicine
Last seen:
4 years, 8 months ago
Joined:
5 years, 6 months ago
Email:
s*****@eng.ucsd.edu

Posts by sak042

<prev • 3 results • page 1 of 1 • next >
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Comment: C: Representative AA change from point mutation given by genomic lcus
... Thank you for your great suggestion. We tried to prioritize isoforms by how frequently they have observed and how they are likely to be translated to proteins. By inspecting Ensembl, we could have some hints for the latter such as if they are protein-coding or generated by some abnormal events (e.g. ...
written 4.7 years ago by sak04210
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Comment: C: Representative AA change from point mutation given by genomic lcus
... My colleagues had the same opinion with yours. I had one question in how to measure the "severity" of the mutation. For instance, nonsense is likely to be more severe than missense mutations but nonsense at the end of the product (protein) may not be as severe as the one in the front side. As you su ...
written 4.7 years ago by sak04210
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Representative AA change from point mutation given by genomic lcus
... We are having a hard time to determine a "representative" amino acid change that resulted from a genomic point mutation. Obviously, a genomic point mutation in a coding region leads to a protein sequence change  (including missense, nonsense, splice-variants... etc). Problem is, there are multiple p ...
sequence snp written 4.7 years ago by sak04210 • updated 4.7 years ago by Devon Ryan93k

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