Calculating variant penetrance from family history of disease and average family size in population-scale data.

Spargo, Thomas P; Opie-Martin, Sarah; Bowles, Harry; Lewis, Cathryn M; Iacoangeli, Alfredo; Al-Chalabi, Ammar

Spargo, Thomas P; Opie-Martin, Sarah; Bowles, Harry; Lewis, Cathryn M; Iacoangeli, Alfredo; Al-Chalabi, Ammar.

Afiliação

Spargo TP; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, SE5 9RX, UK.
Opie-Martin S; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, SE5 9RX, UK.
Bowles H; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, SE5 9RX, UK.
Lewis CM; Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, de Crespigny Park, London, SE5 8AF, UK.
Iacoangeli A; Department of Medical and Molecular Genetics, Faculty of Life Sciences and Medicine, King's College London, London, UK.
Al-Chalabi A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, SE5 9RX, UK. alfredo.iacoangeli@kcl.ac.uk.

Genome Med ; 14(1): 141, 2022 12 15.

Article em En | MEDLINE | ID: mdl-36522764

Assuntos

Esclerose Lateral Amiotrófica; Humanos; Penetrância; Linhagem; Esclerose Lateral Amiotrófica/genética; Fenótipo; Características da Família

Palavras-chave

Autosomal dominant; Disease; Familial; Penetrance; Sporadic; Variant

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esclerose Lateral Amiotrófica Limite: Humans Idioma: En Revista: Genome Med Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido

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