14509 results for "PLOS+ONE+Pennsylvania+German+ACS+language+code+pdc+open+access+study"

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• Baylor Hopkins Center for Mendelian Genomics (BH CMG)

  The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.

  Study phs000711

• Broad Institute Center for Mendelian Genomics

  The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.

  Study phs001272

• University of Washington Center for Mendelian Genomics (UW-CMG)

  The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.

  Study phs000693

• A fast, affordable and minimally-invasive diagnostic test for Cancer of Unknown Primary (CUP) using DNA methylation profiling

  CUP diagnosis on FFPE tissue and liquid biopsies (blood, pleural and peritoneal effusions) using cfRRBS (cell-free reduced representation bisulfite sequencing), a technique that allows for identification of the methylation profile starting from minimal amounts of highly fragmented DNA.

  Study EGAS50000000257

• Sex Differences in MAGEL2 Gene Promoter Methylation in High Functioning Autism - Trends from a Pilot Study Using Nanopore Cas9 Targeted Long Read Sequencing

  Using DNA extracted from peripheral blood, Cas9-targeted nanopore DNA sequencing was used to analyze MAGEL2 gene, including its entire regulatory construct (chr15:23639316-23651466), for sequence variation and 5-methyl-cytosine (5mC) modification in a cohort of adults with HFA compared to sex- and age-matched NC.

  Dataset EGAD50000000726

• ST dataset of subcortical MS

  Spatial transcriptomics from subcortical white matter controls and MS lesions, specifically chronic active (CA) and chronic inactive (CI), that paired with single-nuclei RNA-sequencing from the same samples , was used to identify spatial niches and key cell interactions driving inflammation and disease progression

  Study EGAS50000000353

• Genomic profiling of Rare Tumors Release 2

  Utilizing the rare and unique patient samples provided by Pattern Medicine, LLC, MD Anderson will molecularly characterize rare cancer samples, and potentially generate a collection of preclinical models to enable identification of novel therapeutic targets and concepts, as well as evaluation of innovative treatment strategies.

  Study EGAS50000000615

• Scywalker: scalable end-to-end data analysis workflow for nanopore single-cell transcriptome sequencing

  Existing nanopore single-cell data analysis tools showed severe limitations in handling current data sizes. We developed novel scalable methods for cell barcode demultiplexing and single-cell isoform calling and quantification and incorporated these in an easily deployable package called scywalker.

  Study EGAS50000000537

• Genome-wide association scan in Parkinson's disease

  Genome-wide association scan was performed in 1,705 cases of parkinson's genotyped on the Illumina Human 660W SNP array, and 5,175 controls genotyped on the Illumina1.2M-Duo. Analysis was carried out on the overlaps set of SNPs.

  Study EGAS00000000034

• ICARUS-LUNG01-RNAseq

  Bulk RNA-seq was carried out on 20 pairs of frozen tumor biopsies. Differential gene expression (DGE) analyses was conducted, looking at the fold change of gene expression of matched on-T/BL samples in the overall population and, then, separately in responders and non-responders.

  Study EGAS50000000732