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Article

Molecular Modelling Hurdle in the Next-Generation Sequencing Era.

International journal of molecular sciences - 28 Jun 2022

Fernandez Guerau, Yubero Dèlia, Palau Francesc, Armstrong Judith

Abstract excerpt

There are challenges in the genetic diagnosis of rare diseases, and pursuing an optimal strategy to identify the cause of the disease is one of the main objectives of any clinical genomics unit. A range of techniques are currently used to characterize the genomic variability within the human genome to detect causative variants of specific disorders. With the introduction of next-generation sequencing (NGS) in the...

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PMID: 35806177
DOI: 10.3390/ijms23137176
PMCID: PMC9266691

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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