EGAGenomicsIllumina HiSeq 2000Otherhttps://ega-archive.org/studies/EGAS00001000488EGAEGA study EGAS00001000488Sequencing probands and families with severe insulin resistance syndromesEGArestrictedcluster, syndrome associated with disease or disorder, syndrome, Body fails to respond to insulin, Clusters, syndromes, syndromic disease or disorder, Symptom, clusters, Drug resistance to insulin (disorder), symptom cluster, Syndromes, IR, Cluster, Symptom Cluster, syndromic disease, Insulin, Symptom Clusters, Resistance, symptom clusters, Sensitivity, symptom, Severe, Insulin Sensitivity, symptom.cluster, screening, heredity., WES, findings, Papers, syndrome associated with disease or disorder, signs, syndrome, Sciences, Clusters, Body fails to respond to insulin, syndromes, syndromic disease or disorder, Symptom, clusters, Drug resistance to insulin (disorder), symptom cluster, Syndromes, Cluster, IR, Symptom Cluster, syndromic disease, Insulin, Symptom Clusters, symptom clusters, Resistance, symptoms, core, symptom, Sensitivity, Insulin SensitivityfalseSequencing probands and families with severe insulin resistance syndromesThis 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.2017-07-26 15:39:25EGAS000010004889606EGAD00001000694EGAC00001000205