Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data.

Koko, Mahmoud; Abdallah, Mohammed O E; Amin, Mutaz; Ibrahim, Muntaser

Koko, Mahmoud; Abdallah, Mohammed O E; Amin, Mutaz; Ibrahim, Muntaser.

Afiliação

Koko M; Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, P. O. Box 102, Army Road, 11111, Khartoum, Sudan. mahmoudkoko@outlook.com.
Abdallah MOE; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany. mahmoudkoko@outlook.com.
Amin M; Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, P. O. Box 102, Army Road, 11111, Khartoum, Sudan.
Ibrahim M; Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, P. O. Box 102, Army Road, 11111, Khartoum, Sudan.

BMC Genomics ; 19(1): 46, 2018 01 15.

Article em En | MEDLINE | ID: mdl-29334895

Assuntos

Alelos; Sequenciamento do Exoma; Variação Genética; Frequência do Gene; Genoma Humano; Humanos; Padrões de Referência; Trombose Venosa/genética; Sequenciamento do Exoma/normas

Palavras-chave

Human exome; Minor reference alleles; Next generation sequencing; Variant calling

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Alelos / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Revista: BMC Genomics Assunto da revista: GENETICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Sudão

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