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• Human gut microbiome in babies with biliary atresia and normal controls

  Study EGAS00001005350

• PIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytoma

  Study EGAS00001005653

• DNA methylation profiles of samples included in the EORTC 26091 TAVAREC trial

  Study EGAS00001006015

• Quantitative Exploratory Proteomics Analysis of Glioblastoma in Initial and Recurrent Tumors

  Study EGAS00001006395

• VRK3 depletion in Pontine Diffuse Midline Glioma (DMG)-K27 altered cells

  Study EGAS00001007047

• Single cell landscape of Multicentric Castleman Disease in monozygotic twins

  Study EGAS00001007390

• Measuring the Efficiency of Purging by Nonrandom Mating in Human Populations

  Study EGAS00001007831

• Myeloid cell programming in patients with non-medullary thyroid carcinoma

  Study EGAS00001005594

• Genomic determinants of therapy response in ETV6-RUNX1 leukemia

  Study EGAS00001007066

• The_GENCODE_exome___sequencing_the_complete_human_exome

  We report the design of an extended set of targets for capturing the complete human exome, based on annotation from the GENCODE consortium. The extended set covers an addition 5,594 genes and 10.3 Mb compared to current sets which mainly target the CCDS database. The additional regions include potential disease genes previously inaccessible to exome resequencing studies, such as 43 genes linked to ion channel activity and 70 genes linked to protein kinase activity. In total, the new GENCODE exome set developed covers 47.9Mb and performed well in sequence capture experiments with HapMap and clinical samples. Samples within this study are prepared with either the CCDS or GENCODE exome products.

  Study EGAS00001000016