237 results for "study_type:"exome sequencing" AND repository:ega"

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• Familial Melanoma Sequencing

  In this experiment we have sequenced the exome of 15 individuals from eight families who have familial melanoma. By sequencing the exome we hope to be able to identify new genes that are associated with this disease.

  Study EGAS00001000017

• 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

• Whole-exome sequencing of NTHL1 deficient tumors

  Study EGAS00001003400

• Analysis of the genomic landscape of chemoresistant multiple myeloma

  Study EGAS00001003709

• Clonal evolution in myelofibrosis during ruxolitinib therapy

  Study EGAS00001003829

• A body map of somatic mutagenesis in morphologically normal human tissues (WES)

  Study EGAS00001005459

• Whole-exome sequencing

  Buccal mucosal remodelling was evaluated through whole-exome sequencing on 40 samples of 0.2mm^2 in size from a subject. A paired control sample was also sequenced.

  Study EGAS50000000055

• Duplex sequencing

  A total of 387 buccal swab samples were subjected to error-corrected sequencing (duplex sequencing).

  Study EGAS50000000054

• Idiopathic Collapsing Glomerulopathy in Brazilian patients

  Collapsing glomerulopathy is a severe kidney disease that often leads to chronic dialysis or kidney transplantation. To expand its understanding, we performed a broad clinical and genetic analysis of a highly admixed patient population with idiopathic collapsing glomerulopathy.

  Study EGAS50000000064

• Exome sequencing of patient samples from study

  Exome sequencing data from FFPE preserved patient samples and patient-derived cultures. The goal of the study is to validate patient-derived cultures. Additional goal is to understand the relationship between omics and drug response.

  Study EGAS50000000171