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Article

Reference genome assessment from a population scale perspective: an accurate profile of variability and noise.

Bioinformatics (Oxford, England) - 15 Nov 2017

Carbonell-Caballero José, Amadoz Alicia, Alonso Roberto, Hidalgo Marta R, Çubuk Cankut, Conesa David, López-Quílez Antonio, Dopazo Joaquín

Abstract excerpt

MOTIVATION: Current plant and animal genomic studies are often based on newly assembled genomes that have not been properly consolidated. In this scenario, misassembled regions can easily lead to false-positive findings. Despite quality control scores are included within genotyping protocols, they are usually employed to evaluate individual sample quality rather than reference sequence reliability. We propose a...

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Identifiers

PMID: 28961772
DOI: 10.1093/bioinformatics/btx482
PMCID: PMC5870781

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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