Samra Turajlic

Jul 14, 2024 | nature.com | Richard Culliford |Charlie Mills |Alex J. Cornish |Ben Kinnersley |Amit Sud |Husayn Pallikonda | +5 more

AbstractClear cell renal cell carcinoma (ccRCC) is the most common form of kidney cancer, but a comprehensive description of its genomic landscape is lacking. We report the whole genome sequencing of 778 ccRCC patients enrolled in the 100,000 Genomes Project, providing for a detailed description of the somatic mutational landscape of ccRCC.

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 …