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• SPATC1L variants associated with age-related and hereditary hearing loss

  Next-Generation Sequencing techniques (i.e, targeted re-sequencing and whole exome sequencing) have been employed for the study of two Italian patients affected by age-related hearing loss and of an Italian family affected by hereditary hearing loss. Data analysis led to the identification of three variants in SPATC1L, associated with the clinical phenotype.

  Study EGAS00001003047

• Mutation tracking in single cell RNA-Seq reveals consequences of subclonal evolution in acute myeloid leukemia

  Total bone marrow from AML patients was FACS index sorted with staining for Lineage markers (Lin), CD33, CD34, CD38, CD45RA, CD90, CD99, Tim3 and GPR56, and enrichment for Lin- and Lin-CD34+ cells. Single cells were subjected to a modified smart-seq2 protocol with targeting of mutant sites of interest ("MutaSeq”).

  Study EGAS00001003414

• 16S-based fecal microbiota composition of the Milieu Intérieur Cohort

  The Milieu Intérieur project is a population-based study coordinated by the Institut Pasteur, Paris. The objective is to dissect the interplay between genetics and environment and their impact on the immune system. One of the primary goals of the project is to ascertain the role of the microbiota in regulating immune programs.

  Study EGAS00001003419

• 2014 chunnam AML analysis

  2014 AML analysis is conducted with samples collected from Chunnam universty. 67 paired samples are belong to this project. The study was designed to examine the molecular abnormalities from leukemic patients at initial diagnosis in comparison with corresponding germ line control (saliva samples). The results of WXS were analyzed by Mutect for ranking cancer variants and creating mutational matrix.

  Study EGAS00001001082

• ATAC-seq of uncultured CD112high and CD112low long-term(LT) human hematopoietic stem cells (HSC) from umbilical cord blood

  ATAC-sequencing was performed to establish chromatin accessibility signatures that underlie the differential in vitro priming and regeneration phenotypes of CD112high and CD112low LT-HSC. CD112high and CD112low LT-HSC from 2-3 independent human umbilical cord blood pools were prospectively isolated for DNA extraction, library preparation and sequencing.

  Study EGAS00001005121

• Amplicon based NGS of human CD4 and CD8 T cells

  Panel-based next-generation sequencing data of 211 human CD4 T cells, CD8 T cells and genomic DNA. The panel was designed to capture 260 SNVs in high linkage disequilibrium with multiple sclerosis susceptibility SNVs. NGS was carried out using PE300 reads on the Illumina MiSeq (Illumina Inc., San Diego, CA, United States).

  Study EGAS00001004139

• An integrated molecular study of 20 hepatoblastoma pairs using whole genome sequencing and RNA sequencing

  Hepatoblastoma is an uncommon malignant liver cancer occurring in infants and children. The mutant background of hepatoblastoma has not been fully demonstrated. The aim of this study is to genomically depict the mutational landscape of hepatoblastoma through an integrative analysis of whole genome sequencing and RNA sequencing of 20 hepatoblastomas from Chinese individuals.

  Study EGAS00001002772

• Analysis of Complex Genomic Rearrangements of Lung Adenocarcinomas

  Lung adenocarcinomas (LADC) are heterogeneous disease with distinct etiology. A majority of tumors are related with tobacco smoking, and some tumors arise from never-smoking or young patients, whose clinical history do not support the environmental carcinogen-induced oncogenes. Here we analyzed complex rearrangements in lung adenocarcinomas including tumors with distinct etiologies.

  Study EGAS00001002801

• Collection of Genotypic and Ethnographic Information from Individuals of South African Ethnic Groups

  The hunter-gatherers and pastoralists of South Africa retain the highest genetic diversity of any population. Genetic determinants of light skin pigmentation, reduced stature etc and other basic biomedical phenotypes are unique to samples with Southern African hunter-gatherer and pastoralist ancestry or retain ancestral haplotypes not found in other populations.

  Study EGAS00001004472

• ChIP-seq data of H3K4me3, H3K27ac and H3K27me3 on multiple human embryonic tissues.

  The regulatory landscape of the human genome during organogenesis is undescribed for most tissues. We used ChIP-seq to survey histone modifications in 13 human embryonic tissues. We describe patterns of both common and tissue-specific marking of promoter activation and repression and use enhancer usage to infer regulatory pathways.

  Study EGAS00001003163