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Comprehensive analysis of the genetic variation in the<i>LPA</i>gene from short-read sequencing

2024-03-22

Abstract excerpt

Lipoprotein (a) [LP(a)] is a risk factor for cardiovascular diseases and mainly regulated by the complex LPA gene. We investigated the types of variation in the LPA gene and their predictive performance on LP(a) concentration. We determined the Kringle IV-type 2 (KIV-2) copy number (CN) using the DRAGEN LPA Caller (DLC) and a read-depth based CN estimator in 8351 whole genome sequencing samples from the GENESIS-HD...

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Literature Corpus work
2ff29259-34bd-54cd-abfa-4f7f4e156967
DOI
10.1101/2024.03.21.24304527
Open publication

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Comprehensive analysis of the genetic variation in the<i>LPA</i>gene from short-read sequencingDOI 10.1101/2024.03.21.24304527
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