Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach.

Holt, Giles S; Batty, Lois E; Alobaidi, Bilal K S; Smith, Hannah E; Oud, Manon S; Ramos, Liliana; Xavier, Miguel J; Veltman, Joris A

Holt, Giles S; Batty, Lois E; Alobaidi, Bilal K S; Smith, Hannah E; Oud, Manon S; Ramos, Liliana; Xavier, Miguel J; Veltman, Joris A.

Afiliação

Holt GS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Batty LE; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Alobaidi BKS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Smith HE; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Oud MS; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.
Ramos L; Department of Obstetrics and Gynecology, Division of Reproductive Medicine, Radboudumc, Nijmegen, The Netherlands.
Xavier MJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Veltman JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.

Hum Mutat ; 43(11): 1545-1556, 2022 11.

Article em En | MEDLINE | ID: mdl-36047340

Assuntos

Sequenciamento de Nucleotídeos em Larga Escala; Feminino; Humanos; Masculino; Sequenciamento de Nucleotídeos em Larga Escala/métodos; Mutação; Análise de Sequência de DNA/métodos; Polimorfismo de Nucleotídeo Único

Palavras-chave

DNM; WES; long-read sequencing; parent-of-origin; phasing; targeted sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequenciamento de Nucleotídeos em Larga Escala Limite: Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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