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Rapid Automated Large Structural Variation Detection in a Diploid Genome by NanoChannel Based Next-Generation Mapping

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What this work says

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

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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

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Association Between Early-Onset Parkinson Disease and 22q11.2 Deletion Syndrome

inferredcites →https://doi.org/10.1016/j.ajhg.2010.04.006openalex-snapshot

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

inferredcites →https://doi.org/10.1016/j.ajhg.2014.09.005openalex-snapshot

Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders

inferredcites →https://doi.org/10.1016/j.biopsych.2011.09.034openalex-snapshot

Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism

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Segmental duplications: an 'expanding' role in genomic instability and disease

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Large, rare chromosomal deletions associated with severe early-onset obesity

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A map of human genome variation from population-scale sequencing

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An integrated map of genetic variation from 1,092 human genomes

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Resolving the complexity of the human genome using single-molecule sequencing

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An integrated map of structural variation in 2,504 human genomes

inferredcites →https://doi.org/10.1038/nmeth.1527openalex-snapshot

Limitations of next-generation genome sequence assembly

inferredcites →https://doi.org/10.1038/nrg3933openalex-snapshot

Genetic variation and the de novo assembly of human genomes

inferredcites →https://doi.org/10.1097/fpc.0b013e328352c770openalex-snapshot

Genome-wide identification of structural variants in genes encoding drug targets

inferredcites →https://doi.org/10.1101/gr.233007.117openalex-snapshot

Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data

inferredcites →https://doi.org/10.1111/bjh.13507openalex-snapshot

Mechanisms and clinical applications of chromosomal instability in lymphoid malignancy

inferredcites →https://doi.org/10.1159/000143403openalex-snapshot

LPA and PLG Sequence Variation and Kringle IV-2 Copy Number in Two Populations

inferredcites →https://doi.org/10.1186/gb-2010-11-5-r52openalex-snapshot

Towards a comprehensive structural variation map of an individual human genome

inferredcites →https://doi.org/10.1371/journal.pgen.1002384openalex-snapshot

Repetitive Elements May Comprise Over Two-Thirds of the Human Genome

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Ultra High-Resolution Gene Centric Genomic Structural Analysis of a Non-Syndromic Congenital Heart Defect, Tetralogy of Fallot

inferredcites →https://doi.org/10.1534/genetics.115.183483openalex-snapshot

Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays

What points at this work

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

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Neurogenetic Variant Analysis by Optical Genome Mapping for Structural Variation Detection-Balanced Genomic Rearrangements, Copy Number Variants, and Repeat Expansions/Contractions

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Detecting Large Indels Using Optical Map Data

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Next-generation cytogenomics: High-resolution structural variation detection by optical genome mapping

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Translating genomics to the clinical diagnosis of disorders/differences of sex development

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Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping

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New technologies to uncover the molecular basis of disorders of sex development

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Repeat length as a key determinant for disease severity and antisense oligonucleotide activity in myotonic dystrophy type 1

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Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

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Structural variation in the sequencing era

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Next-Generation Sequencing and Emerging Technologies

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Four distinct ipsilateral vestibular schwannomas: A case of mosaic NF2-related schwannomatosis

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Optical Genome Mapping Reveals Novel Structural Variants in Lymphoblastic Lymphoma

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Automated Structural Variant Verification in Human Genomes using Single-Molecule Electronic DNA Mapping

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Whole genome optical mapping reveals multiple fusion events chained by large novel sequences in cancer

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Next generation cytogenetics: comprehensive assessment of 48 leukemia genomes by genome imaging

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A National Multicenter Evaluation of the Clinical Utility of Optical Genome Mapping for Assessment of Genomic Aberrations in Acute Myeloid Leukemia

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Application of Optical Genome Mapping For Comprehensive Assessment of Chromosomal Structural Variants for Clinical Evaluation of Myelodysplastic Syndromes

inferred← citeshttps://doi.org/10.1101/2023.01.21.23284853openalex-snapshot

Comparative benchmarking of optical genome mapping and chromosomal microarray reveals high technological concordance in CNV identification and structural variant refinement

inferred← citeshttps://doi.org/10.1101/371518openalex-snapshot

CRISPR-bind: a simple, custom CRISPR/dCas9-mediated labeling of genomic DNA for mapping in nanochannel arrays

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Optical mapping reveals a higher level of genomic architecture of chained fusions in cancer

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nanotatoR: a tool for enhanced annotation of genomic structural variants

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Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

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Fully Phased Sequence of a Diploid Human Genome Determined de Novo from the DNA of a Single Individual

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Differences of sex development in the newborn: from clinical scenario to molecular diagnosis

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The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis

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Optical Genome Mapping: A Promising New Tool to Assess Genomic Complexity in Chronic Lymphocytic Leukemia (CLL)

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Optical Genome Mapping for Comprehensive Assessment of Chromosomal Aberrations and Discovery of New Fusion Genes in Pediatric B-Acute Lymphoblastic Leukemia

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Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing

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Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method

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