A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.

Pei, Yang; Tanguy, Melanie; Giess, Adam; Dixit, Abhijit; Wilson, Louise C; Gibbons, Richard J; Twigg, Stephen R F; Elgar, Greg; Wilkie, Andrew O M

Pei, Yang; Tanguy, Melanie; Giess, Adam; Dixit, Abhijit; Wilson, Louise C; Gibbons, Richard J; Twigg, Stephen R F; Elgar, Greg; Wilkie, Andrew O M.

Afiliação

Pei Y; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.
Tanguy M; Genomics England Limited, One Canada Square, London E14 5AB, UK.
Giess A; Genomics England Limited, One Canada Square, London E14 5AB, UK.
Dixit A; Clinical Genetics Service, Nottingham University Hospitals NHS Foundation Trust, City Hospital, Nottingham NG5 1PB, UK.
Wilson LC; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, London WC1N 3JH, UK.
Gibbons RJ; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.
Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.
Elgar G; Genomics England Limited, One Canada Square, London E14 5AB, UK.
Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.

Genes (Basel) ; 15(7)2024 Jul 16.

Article em En | MEDLINE | ID: mdl-39062704

Assuntos

Benchmarking; Sequenciamento por Nanoporos; Sequenciamento Completo do Genoma; Humanos; Sequenciamento Completo do Genoma/métodos; Sequenciamento Completo do Genoma/normas; Sequenciamento por Nanoporos/métodos; Benchmarking/métodos; Variação Estrutural do Genoma/genética; Mapeamento Cromossômico/métodos; Genoma Humano/genética; Genômica/métodos; Software; Sequenciamento de Nucleotídeos em Larga Escala/métodos; Sequenciamento de Nucleotídeos em Larga Escala/normas; Feminino; Nanoporos; Masculino; Análise de Sequência de DNA/métodos; Análise de Sequência de DNA/normas

Palavras-chave

Bionano optical genome mapping; Illumina sequencing; Oxford Nanopore Technologies; copy number variant; long read; short read; structural variant

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Benchmarking / Sequenciamento Completo do Genoma / Sequenciamento por Nanoporos Idioma: En Ano de publicação: 2024 Tipo de documento: Article

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