Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations.

Molecular genetics and genomics : MGG - 7 Jul 2024

Ji Yanfeng, Zhao Junfan, Gong Jiao, Sedlazeck Fritz J, Fan Shaohua

Abstract excerpt

BACKGROUND: A large number of challenging medically relevant genes (CMRGs) are situated in complex or highly repetitive regions of the human genome, hindering comprehensive characterization of genetic variants using next-generation sequencing technologies. In this study, we employed long-read sequencing technology, extensively utilized in studying complex genomic regions, to characterize genetic alterations,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Copy Number Variations
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genetics, Population

Share to Genome, Human

Share to High-Throughput Nucleotide Sequencing

Share to INDEL Mutation

Share to Polymorphism, Single Nucleotide

Source

Identifiers

PMID: 38972030
DOI: 10.1007/s00438-024-02158-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations.PMID 38972030Read ↗

Characterizing the genetic polymorphisms in 370 challenging medically relevant genes using long-read sequencing data from 41 human individuals among 19 global populationsSemantic proximity Read ↗

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingSemantic proximity Read ↗

A global reference for human genetic variation.Semantic proximity Read ↗

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variantsSemantic proximity Read ↗

An integrated map of genetic variation from 1,092 human genomes.Semantic proximity Read ↗

Finding an optimal sequencing strategy to detect short and long genetic variants in a human genomeSemantic proximity Read ↗

Benchmarking of sequencing technologies defines optimal strategies for genetic variants detection in a human genome.Semantic proximity Read ↗

HiFi long-read genomes for difficult-to-detect clinically relevant variantsSemantic proximity Read ↗

Genome sequencing for the diagnosis of rare disorders: The Brazilian Rare Genomes Project.Semantic proximity Read ↗

Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variationSemantic proximity Read ↗

Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal GenesSemantic proximity Read ↗

Structural variants in Chinese population and their impact on phenotypes, diseases and population adaptationSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.