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Zané Lombard on Muck Rack

Zané Lombard

As seen in: Nature, Quartz, The Conversation, Medical Xpress, AllAfrica, Modern Ghana, Mail & Guardian, Down To Earth
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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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Challenges and recommendations in establishing national human diversity genomic projects

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By Taras Oleksyk, Walter Wolfsberger, Karishma Chhugani, Yu-Ning Huang, Valerii Pokrytiuk, Khrystyna Shchubelka, Alex Zelikovsky, Bogdan Pasaniuc, Viorel Jinga, Octavian Bucur, Scott Edmunds, Heinner Guio, Zané Lombard, Brenna M. Henn, Andrei Lobiuc, Dumitru Ciorba, Viorel Bostan, Viorel Munteanu, Victor Gordeev, Christian Schaaf, Boon-Peng Hoh, Andrés Estrada Verified, Mihai Covasa, Mihai Dimian, Ulykbek Kairov, Victoria M. Pak, Charleston W. K. Chiang, Matteo Pellegrini, Yosr Hamdi, Malak Abedalthagafi, Nicola Mulder, Jazlyn Mooney, Javier E. Sanchez-Galan, Henriette Raventós, Marina Muzzio, Gabriela Chavarria-Soley, Serghei Mangul, Alexei Levitchi, Emmanuel Nepolo, Sandro José de Souza
| Nature Verified
To ensure that the benefits of biomedical research are shared globally, we must overcome the barriers preventing the establishment of national genomic projects in underrepresented regions by navigating the ethical, legal and financial complexities of launching these initiatives.
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Genomic study reveals rich diversity and health insights in Africa

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By Zané Lombard
| news.india24.press
Genomic study reveals rich diversity and health insights in Africa - In a groundbreaking study led by the Human Heredity and health consortium, researchers sequenced the genomes of 426 individuals from 13 African countries, representing more than 50 ethnolinguistic groups. The study revealed more than three million new genetic variants, shedding light on human genetic diversity, migration patterns and disease susceptibility in Africa.
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