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Article

HiFi long-read genomes for difficult-to-detect, clinically relevant variants.

American journal of human genetics - 6 Feb 2025

Höps Wolfram, Weiss Marjan M, Derks Ronny, Galbany Jordi Corominas, Ouden Amber den, van den Heuvel Simone, Timmermans Raoul, Smits Jos, Mokveld Tom, Dolzhenko Egor, Chen Xiao, van den Wijngaard Arthur, Eberle Michael A, Yntema Helger G, Hoischen Alexander, Gilissen Christian, Vissers Lisenka E L M

Abstract excerpt

Clinical short-read exome and genome sequencing approaches have positively impacted diagnostic testing for rare diseases. Yet, technical limitations associated with short reads challenge their use for the detection of disease-associated variation in complex regions of the genome. Long-read sequencing (LRS) technologies may overcome these challenges, potentially qualifying as a first-tier test for all rare...

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Genetic Testing
Genetic Variation
Genome, Human
Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Polymorphism, Single Nucleotide

Sequence Analysis, DNA

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Identifiers

PMID: 39809270
DOI: 10.1016/j.ajhg.2024.12.013
PMCID: PMC11866944

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