Engela Honey on Muck Rack

Engela Honey

As seen in: Nature
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Articles

Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study

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By Phelelani Mpangase, Thirona Naicker, Laura Yates, Gerrye Mubungu, Kris Van den Bogaert, Helen V Firth, Matthew E Hurles, Koen Devriendt, Aime Lumaka, Zané Lombard, Nadja Louw, Barry Shingwenyana, Zandisiwe Goliath, Engela Honey, Prosper Lukusa Tshilobo, Nadia Carstens
| Nature Verified
Abstract Copy number variants (CNV) contribute significantly to the pathogenic variation associated with developmental disorders. CNV detection is often not included in standard exome sequencing (ES) analysis. Complementary methods such as chromosomal microarray are typically offered in diagnostic laboratories to diagnose pathogenic CNV.
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