259 results for ""independent+of+the+choice+of+kernel"+regularization+parameter+volumetric+rendering+paper"

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• BIG_MS_Pilot

  Testing logistics and infrastructure of molecular screening program. Core biopsies taken from invasive recurrent or metastatic breast cancer to evaluate and identify molecular traits rendering them suitable for clinical trials

  Study EGAS00001000616

• The Ultrasound Study of Tamoxifen

  The Ultrasound Study of Tamoxifen is a 12-month longitudinal study to describe volumetric breast density change over time among women with and without tamoxifen exposure. Women were enrolled at the Karmanos Cancer Institute and Henry Ford Health Systems in Detroit, Michigan between 2011-2014. Enrollment included women prescribed tamoxifen for clinical indication (n=82) and a comparison group of women frequency matched on age, race, and menopausal status (n=165). Whole breast ultrasound tomography (UST) scans were used to measure volume averaged sound speed (m/s) as a surrogate of volumetric breast density. Ultrasound tomography (UST) scans were completed at baseline prior to tamoxifen initiation and were repeated at 1-3 months, 4-6 months, and 12 months after tamoxifen initiation. For the comparison group, UST scans were completed at baseline and 12 months. Questionnaires were completed at each scan.

  Study phs003183

• BIG MS Pilot

  Testing logistics and infrastructure of molecular screening program. Core biopsies taken from invasive recurrent or metastatic breast cancer to evaluate and identify molecular traits rendering them suitable for clinical trials

  Dataset EGAD00001000870

• Structural variants

  Structural variants assessed in 6 patient samples with varying phenotypes, through the use of sniffles2 with a support parameter of 1 and at a length of 30 bp

  Dataset EGAD50000000741

• Genetics of Mammographic Density in Ashkenazi Jews

  Mammographic density (MD) is a strong risk factor for breast cancer and is also a highly heritable trait with ~60-70% of the variance due to genetic factors, based on twin studies. MD is also higher in families with a strong history of breast cancer. Genome-wide association studies (GWAS), which focus on common genetic variants, have identified several single nucleotide polymorphisms (SNPs) associated with MD. However, these SNPs explain a very small fraction of the variance of MD, suggesting many other genes are involved. Thus, the vast majority of the heritability of mammographic density remains unexplained and may be explained, at least in part, by rare variants. Ashkenazi Jewish women are a founder population; founder populations frequently have alleles affecting phenotypes which may be unique and/or extremely rare in other populations. Prior reports have identified an association between higher mammographic density and Ashkenazi Jewish ancestry. Therefore, we developed a study of mammographic density in AJ women. We combined datasets from several different cohorts including (a) the California Pacific Medical Center Research Institute (b) the Athena Breast Health Cohort and (c) the Marin Women's study. In each study, we identified women who reported AJ ancestry (determined by self-report or by genetic analysis). We identified mammograms by linking the women to the San Francisco Mammography Registry. We retrieved digital mammographic results and used software to infer volumetric density and percent volumetric density for each woman. We then performed genome-wide genotyping of the samples using the Illumina MEGA array.

  Study phs001857

• Transcriptomic analysis of LINE1 expression in the human brain

  Twist Bioscience probes were designed to LINE1 and HERV sequences for targeted amplification. Enriched cDNA libraries were then sequenced on the PacBio Sequel II, 4 samples/SMRTcell. The available files have undergone ccs (using the default parameters except for --min-rq 0.9, which was a recommended parameter for Iso-Seq) and barcode demultiplexing. Recommended analysis follows https://isoseq.how/, starting at the primer removal and demultiplexing step with lima.

  Dataset EGAD50000000265

• NHLBI TOPMed: The Genetics and Epidemiology of Asthma in Barbados

  Asthma is a complex disease where the interplay between genetic factors and environmental exposures influences susceptibility and disease prognosis. Asthmatics of African descent tend to have more severe asthma and more severe clinical symptoms than individuals of European ancestry. The baseline prevalence of asthma in Barbados is high (~20%), and from admixture analyses, we have determined that the proportion of African ancestry among Barbadian founders is similar to U.S. African Americans, rendering this a unique population to disentangle the genetic basis for asthma disparities among African ancestry populations in general. We therefore performed whole genome sequencing on 1,100 individuals from the Barbados Genetics of Asthma Study (BAGS), in order to generate additional discovery of rare and structural variants that may control risk to asthma.

  Study phs001143

• WGS files for double minute brain tumor paper.

  Whole Genome Sequencing files accompanying the paper titled "Structure and evolution of double minutes in diagnosis and relapse brain tumors". Please read the paper for more details.

  Dataset EGAD00001004337

• RNA-seq study of longitudinal blood cell samples from children at risk of type 1 diabetes

  The appearance of type 1 diabetes (T1D)-associated autoantibodies is the first and only measurable parameter to predict progression toward T1D in genetically susceptible individuals. However, autoantibodies indicate an active autoimmune reaction, wherein the immune tolerance is already broken. Therefore, there is a clear and urgent need for new biomarkers that predict the onset of the autoimmune reaction preceding auto-antibody positivity or reflect progressive b-cell destruction. Here we report the mRNA sequencing–based analysis of 306 samples including fractionated samples of CD4+ and CD8+ T cells as well as CD4, CD8 cell fractions and unfractionated PBMC samples longitudinally collected from seven children who developed beta-cell autoimmunity (Case subjects) at a young age and matched control subjects.

  Study EGAS00001004071

• WGS of exposed organoids

  The mutagenicity of bacteria was assessed by serially exposing human small intestinal organoids to various bacterial species or isolated toxins. We have used the following abbreviations: EWT: Organoids exposed to E. coli described in PMID: 32106218 EKO: Organoids exposed to isogenic E. coli as EWT, with knockout of the deltaClbQ gene, rendering them unable to produce colibactin DYE: Organoids exposed to FastGreen injection control dye NIS: Organoids exposed to E. coli Nissle ETBF: Organoids exposed to the protease toxin BTF produced by ETBF-bacteria.

  Dataset EGAD00001008687

• WXS files for MATCH paper

  WXS files for paper titled "Preclinical Pediatric Molecular Analysis for Therapy Choice (MATCH)"

  Dataset EGAD00001015484

• RNASeq files for GenomePaint paper

  RNASeq files for GenomePaint paper titled "Exploration of coding and non-coding variants in cancer using GenomePaint."

  Dataset EGAD00001006680

• WGS files for Zhang GenomePaint paper

  WGS files for GenomePaint paper titled "Exploration of coding and non-coding variants in cancer using GenomePaint."

  Dataset EGAD00001006679

• HiC files for Zhang GenomePaint paper

  HiC files for GenomePaint paper titled "Exploration of coding and non-coding variants in cancer using GenomePaint."

  Dataset EGAD00001006678

• WGS files for paper titled "Preclinical Pediatric Molecular Analysis for Therapy Choice (MATCH)"

  WGS files for paper titled "Preclinical Pediatric Molecular Analysis for Therapy Choice (MATCH)"

  Dataset EGAD00001015697

• Comprehensive benchmarking of methods for mutation calling in circulating tumor DNA

  This study provides a comprehensive benchmarking resource for somatic variant detection in cell-free DNA (cfDNA) from cancer patients. Longitudinal plasma samples from colorectal and breast cancer cohorts were selected to create patient-matched dilution series spanning ultra-low to high circulating-tumour-DNA (ctDNA) fractions, while preserving each individual’s germline and clonal haematopoiesis background. Deep whole-genome sequencing (150×) and ultra-deep whole-exome sequencing (2,000×) generated a reference call set of ~37,000 single-nucleotide variants and ~58,000 insertions/deletions. These data enabled systematic evaluation of nine somatic variant callers across variable ctDNA levels and sequencing depths, and were further used to explore machine-learning–guided parameter tuning. The resulting dataset offers an openly accessible framework for developers and clinicians to assess and optimize somatic variant calling in liquid biopsy applications.

  Study EGAS50000001313

• RNASeq files for CIC paper data

  RNASeq files for CIC paper titled "Malignant progression of an ancestral bone marrow clone harboring a CIC-NUTM2A fusion in isolated myeloid sarcoma"

  Dataset EGAD00001009788

• WXS files for paper titled "Patient-derived pediatric brain tumor organoids faithfully recapitulate primary tumors"

  WXS files for paper titled "Patient-derived pediatric brain tumor organoids faithfully recapitulate primary tumors"

  Dataset EGAD00001015801

• WGS files for paper titled "Patient-derived pediatric brain tumor organoids faithfully recapitulate primary tumors"

  WGS files for paper titled "Patient-derived pediatric brain tumor organoids faithfully recapitulate primary tumors"

  Dataset EGAD00001015800

• RNASeq files for paper titled "Patient-derived pediatric brain tumor organoids faithfully recapitulate primary tumors"

  RNASeq files for paper titled "Patient-derived pediatric brain tumor organoids faithfully recapitulate primary tumors"

  Dataset EGAD00001015802

• WGS files for CIC paper data

  WGS files for CIC paper titled "Malignant progression of an ancestral bone marrow clone harboring a CIC-NUTM2A fusion in isolated myeloid sarcoma"

  Dataset EGAD00001009787

• Additional WGS files for Genomic Landscape ALL paper

  Additional WGS files for Genomic Landscape ALL paper titled "The genomic landscape of pediatric acute lymphoblastic leukemia"

  Dataset EGAD00001010270

• ChIP-Seq data for the paper titled "Orthotopic Patient-Derived Xenografts of Pediatric Solid Tumors"

  ChIP-Seq data for the paper titled "Orthotopic Patient-Derived Xenografts of Pediatric Solid Tumors"

  Dataset EGAD00001003432

• WGS files for paper titled "Genomic Landscape and Clonal Architecture in Pediatric Myeloid Neoplasms with Chromosome 7 Deletions"

  WGS files for Klco paper titled "Genomic Landscape and Clonal Architecture in Pediatric Myeloid Neoplasms with Chromosome 7 Deletions"

  Dataset EGAD00001015490

• RNASeq files for paper titled "Genomic Landscape and Clonal Architecture in Pediatric Myeloid Neoplasms with Chromosome 7 Deletions"

  RNASeq files for Klco paper titled "Genomic Landscape and Clonal Architecture in Pediatric Myeloid Neoplasms with Chromosome 7 Deletions"

  Dataset EGAD00001015492