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Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome Sequencing

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/cphg.49openalex-snapshot

Analysis and Annotation of Whole‐Genome or Whole‐Exome Sequencing Derived Variants for Clinical Diagnosis

inferredcites →https://doi.org/10.1002/humu.23722openalex-snapshot

Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion ofSLC12A2

inferredcites →https://doi.org/10.1016/j.ajhg.2012.07.004openalex-snapshot

Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes

inferredcites →https://doi.org/10.1016/j.ajhg.2017.01.006openalex-snapshot

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

inferredcites →https://doi.org/10.1016/j.jacc.2018.04.078openalex-snapshot

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

inferredcites →https://doi.org/10.1038/ng.806openalex-snapshot

A framework for variation discovery and genotyping using next-generation DNA sequencing data

inferredcites →https://doi.org/10.1038/nrg.2017.116openalex-snapshot

Paediatric genomics: diagnosing rare disease in children

inferredcites →https://doi.org/10.1038/s41436-018-0295-yopenalex-snapshot

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

inferredcites →https://doi.org/10.1056/nejmsr1406261openalex-snapshot

ClinGen — The Clinical Genome Resource

inferredcites →https://doi.org/10.1093/bioinformatics/bts378openalex-snapshot

DELLY: structural variant discovery by integrated paired-end and split-read analysis

inferredcites →https://doi.org/10.1093/bioinformatics/btv710openalex-snapshot

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

inferredcites →https://doi.org/10.1093/gigascience/giy064openalex-snapshot

SV-plaudit: A cloud-based framework for manually curating thousands of structural variants

inferredcites →https://doi.org/10.1093/hmg/ddl057openalex-snapshot

Structural variants: changing the landscape of chromosomes and design of disease studies

inferredcites →https://doi.org/10.1093/nar/gks1213openalex-snapshot

dbVar and DGVa: public archives for genomic structural variation

inferredcites →https://doi.org/10.1093/nar/gkt958openalex-snapshot

The Database of Genomic Variants: a curated collection of structural variation in the human genome

inferredcites →https://doi.org/10.1093/nar/gku1205openalex-snapshot

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

inferredcites →https://doi.org/10.1093/nar/gkv1189openalex-snapshot

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

inferredcites →https://doi.org/10.1093/nar/gkw491openalex-snapshot

Copy number analysis of whole-genome data using BIC-seq2 and its application to detection of cancer susceptibility variants

inferredcites →https://doi.org/10.1093/nar/gky1105openalex-snapshot

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

inferredcites →https://doi.org/10.1101/424267openalex-snapshot

Parliament2: Fast Structural Variant Calling Using Optimized Combinations of Callers

inferredcites →https://doi.org/10.1101/508515openalex-snapshot

Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes

inferredcites →https://doi.org/10.1101/578674openalex-snapshot

An open resource of structural variation for medical and population genetics

inferredcites →https://doi.org/10.1101/gr.114876.110openalex-snapshot

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

inferredcites →https://doi.org/10.1101/mcs.a002469openalex-snapshot

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections

inferredcites →https://doi.org/10.1186/s12864-016-2366-2openalex-snapshot

svclassify: a method to establish benchmark structural variant calls

inferredcites →https://doi.org/10.1186/s13073-018-0606-6openalex-snapshot

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

inferredcites →https://doi.org/10.6084/m9.figshare.963153.v1openalex-snapshot

Aligning sequence reads, clone sequences and assembly con*gs with BWA-MEM

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1016/j.ajhg.2021.12.007openalex-snapshot

StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants

inferred← citeshttps://doi.org/10.1038/s41598-020-63337-5openalex-snapshot

First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations

inferred← citeshttps://doi.org/10.1093/bfgp/elaa009openalex-snapshot

Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies

inferred← citeshttps://doi.org/10.1093/bib/bbaa370openalex-snapshot

A deep learning approach for filtering structural variants in short read sequencing data

inferred← citeshttps://doi.org/10.1093/bib/bbab363openalex-snapshot

Genome sequencing data analysis for rare disease gene discovery

inferred← citeshttps://doi.org/10.1093/nar/gkab347openalex-snapshot

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients

inferred← citeshttps://doi.org/10.1172/jci.insight.148363openalex-snapshot

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

inferred← citeshttps://doi.org/10.1186/s12967-025-07586-wopenalex-snapshot

Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation

inferred← citeshttps://doi.org/10.1186/s13059-021-02507-8openalex-snapshot

MINTIE: identifying novel structural and splice variants in transcriptomes using RNA-seq data

inferred← citeshttps://doi.org/10.1186/s13059-023-03081-xopenalex-snapshot

MGA-seq: robust identification of extrachromosomal DNA and genetic variants using multiple genetic abnormality sequencing

inferred← citeshttps://doi.org/10.1186/s13073-022-01026-wopenalex-snapshot

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

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