five

Tetralogy of fallot whole-exome sequencing

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NIAID Data Ecosystem2026-03-10 收录
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https://www.omicsdi.org/dataset/ega/EGAS00001003302
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资源简介:
829 adult and child probands of Northern European ancestry presenting with TOF were recruited from nine centres: seven in the UK, Leuven (Belgium), and Sydney (Australia). Patients sequenced exhibited no clinical features of recognised syndromes, extra-cardiac abnormalities or learning difficulties. All samples were screened for the 22q11.2 deletion associated with TOF prior to sequencing to ensure that this was not present. Samples were sequenced on HiSeq2000 and reads aligned using BWA.EGA study EGAS00001003302
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2018-11-20
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