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Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries

2023-12-28

Abstract excerpt

We recently demonstrated that low-pass whole-genome sequencing (LP-WGS) with 1x coverage is equally sensitive and specific as chromosome microarray analysis (CMA) for detecting copy number variants (CNVs). Although in Europe and USA the first-tier tests have already transitioned to whole-genome or exome sequencing, even CMA is still unavailable for approximately 71% of the Brazilian population, who exclusively rel...

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Literature Corpus work
aaf447d4-e31a-59e8-951c-1616f3ddfc17
DOI
10.21203/rs.3.rs-3773173/v1
Open publication

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Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countriesDOI 10.21203/rs.3.rs-3773173/v1
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