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

in 9.31 milliseconds.

• Whole Exome sequencing data from Shwachman-Diamond syndrome bone marrow samples

  Study EGAS00001004880

• Whole exome sequencing from small cell lung cancer patients

  Study EGAS00001005087

• Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features

  Study EGAS00001005346

• The Xq22.3 contiguous gene deletion syndrome (ATS-ID)

  Study EGAS00001005354

• Retinal Dystrophy_analysis

  Study EGAS00001005369

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

  Study EGAS00001005459

• PIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytoma

  Study EGAS00001005653

• Longitudinal single-cell transcriptomics reveals distinct patterns of recurrence in acute myeloid leukemia

  Study EGAS00001005820

• Searching for genetic modulators of the phenotypic heterogeneity in Brugada Syndrome

  Study EGAS00001005848

• TLR7 variants in human lupus patients

  Study EGAS00001005965