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Article

Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies.

Human genetics - 1 May 2016

Damiati E, Borsani G, Giacopuzzi Edoardo

Abstract excerpt

The Ion Proton platform allows to perform whole exome sequencing (WES) at low cost, providing rapid turnaround time and great flexibility. Products for WES on Ion Proton system include the AmpliSeq Exome kit and the recently introduced HiQ sequencing chemistry. Here, we used gold standard variants from GIAB consortium to assess the performances in variants identification, characterize the erroneous calls and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27003585
DOI: 10.1007/s00439-016-1656-8
PMCID: PMC4835520

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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