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Identification of Common and Rare Genetic Variation Associated With Plasma Protein Levels Using Whole-Exome Sequencing and Mass Spectrometry.

著者 Solomon T , Lapek JD , Jensen SB , Greenwald WW , Hindberg K , Matsui H , Latysheva N , Braekken SK , Gonzalez DJ , Frazer KA , Smith EN , Hansen JB
Circ Genom Precis Med.2018 Dec ; 11(12):e002170.
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Identifying genetic variation associated with plasma protein levels, and the mechanisms by which they act, could provide insight into alterable processes involved in regulation of protein levels. Although protein levels can be affected by genetic variants, their estimation can also be biased by missense variants in coding exons causing technical artifacts. Integrating genome sequence genotype data with mass spectrometry-based protein level estimation could reduce bias, thereby improving detection of variation that affects RNA or protein metabolism.
PMID: 30562114 [PubMed - in process]
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