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A structural variation reference for medical and …

    https://www.nature.com/articles/s41586-020-2287-8
    A large empirical assessment of sequence-resolved structural variants from 14,891 genomes across diverse global populations in the Genome Aggregation Database (gnomAD) provides a reference map for ...

A structural variation reference for medical and …

    https://pubmed.ncbi.nlm.nih.gov/32461652/
    Structural variants (SVs) rearrange large segments of DNA 1 and can have profound consequences in evolution and human disease 2,3.As national biobanks, disease …

A structural variation reference for medical and …

    https://www.broadinstitute.org/publications/broad629881
    ISSN. 1476-4687. Abstract. Structural variants (SVs) rearrange large segments of DNA and can have profound consequences in evolution and human …

A structural variation reference for medical and …

    https://www.broadinstitute.org/files/publications/2020/08/A%20structural%20variation%20reference%20for%20medical%20and%20population%20genetics.pdf
    A structural variation reference for medical and population genetics Ryan L. Collins 1,2,3,157, Harrison Brand 1,2,4,157, Konrad J. Karczewski 1,5, ... Population genetics …

A structural variation reference for medical and …

    https://www.researchgate.net/publication/341686331_A_structural_variation_reference_for_medical_and_population_genetics
    Here we present a reference of sequence-resolved SVs constructed from 14,891 genomes across diverse global populations …

Author Correction: A structural variation reference for …

    https://pubmed.ncbi.nlm.nih.gov/33536627/
    17 Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia. 18 Program in Medical and Population Genetics, Broad Institute of MIT and …

An open resource of structural variation for medical and …

    https://www.biorxiv.org/content/10.1101/578674v1
    Structural variants (SVs) rearrange the linear and three-dimensional organization of the genome, which can have profound consequences in evolution, …

A structural variation reference for medical and …

    https://www.semanticscholar.org/paper/A-structural-variation-reference-for-medical-and-Collins-Brand/a85b86354a118ee2ab05b9b1b66a6b62bdfce121
    A large empirical assessment of sequence-resolved structural variants from 14,891 genomes across diverse global populations in the Genome Aggregation Database …

Author Correction: A structural variation reference for …

    https://www.nature.com/articles/s41586-020-03176-6
    Author Correction: A structural variation reference for medical and population genetics

(PDF) Author Correction: A structural variation reference …

    https://www.researchgate.net/publication/349010114_Author_Correction_A_structural_variation_reference_for_medical_and_population_genetics
    This curated benchmark reports over 17,000 single-nucleotide variations, 3,600 insertions and deletions and 200 structural variations each for human genome reference GRCh37 and GRCh38 …



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