Article

Unifying genetic testing: next-generation whole exome sequencing delivers comprehensive insights in a single test

2026-05-26

Abstract excerpt

<title>Abstract</title> <p>Here, we developed a novel pipeline for whole exome sequencing (WES) analysis, designated as next-generation WES (ngWES). Being a composite bioinformatics analysis approach, ngWES is capable of the detection of single nucleotide variation (SNV), insertion and deletion (INDEL) and copy number variation (CNV) within a single test and requiring no changes in laboratory technology or workfl...

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Literature Corpus work: 311f49be-cfe4-5cad-b709-9883c5d2596e
DOI: 10.21203/rs.3.rs-8746328/v1

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