Joachim De Jonghe

Jul 5, 2024 | nature.com | Megan Buckley |Chloé Terwagne |Laura Cubitt |Joachim De Jonghe |Samra Turajlic |Evgueni A. Ivakine

AbstractTo maximize the impact of precision medicine approaches, it is critical to identify genetic variants underlying disease and to accurately quantify their functional effects. A gene exemplifying the challenge of variant interpretation is the von Hippel–Lindautumor suppressor (VHL). VHL encodes an E3 ubiquitin ligase that regulates the cellular response to hypoxia.

Jul 4, 2024 | flipboard.com | Megan Buckley |Chloé Terwagne |Athina Ganner |Laura Cubitt |Dong-Kyu Kim |Christina M. Kajba | +11 more

Asking Eric: My DNA family test results showed my brother’s secret child, now what? Dear Eric: Many decades ago, my brother and his girlfriend had a baby. They split soon after the child’s birth and had no contact afterward. He asked …

Aug 8, 2023 | nature.com | Joachim De Jonghe |Tomasz S Kaminski |Anna L. Ellermann |Timo N. Kohler |Gregory M. Findlay |Magdalena Zernicka-Goetz | +1 more

AbstractDroplet microfluidic methods have massively increased the throughput of single-cell sequencing campaigns. The benefit of scale-up is, however, accompanied by increased background noise when processing challenging samples and the overall RNA capture efficiency is lower.