Sequencing probands and families with severe insulin resistance syndromes

This is an ongoing project and continuation to all the sequencing we have been doing over the last few years. We have some additional families and probands with syndromes of insulin resistance not previously sequenced within uk10k or other core funded projects. We would like to complete the sequencing in all of the good quality families and probands we have, this would require another ~50 samples to be WES sequenced. This cohort has already proven to be a rich source of interesting findings with papers in Science and Nature genetics.

本项目为一项持续进行的研究，旨在延续我们过去数年间所进行的所有测序工作。我们拥有一些额外的家族成员和携带胰岛素抵抗综合征的个体，这些个体在 uk10k 或其他核心资助项目中尚未进行测序。我们希望对所拥有的优质家族和个体完成测序工作，这需要额外约50个样本进行全外显子测序。该队列已经证明是富含有趣发现的重要来源，相关论文已发表在《科学》和《自然遗传学》杂志上。