12528 results for ""non-traditional+communal+storytelling+approach"+novel+segment+noted+in+critical+commentary"

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• Whole exome sequencing of papillary thyroid carcinoma in the Chinese population

  Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. Here we submitted the sequencing results for PTC using 91 tumor-normal pairs through exome sequencing in the Chinese Han population.

  Study EGAS00001001268

• Genomic Rearrangements in Pediatric Cancer

  This study contains a collection of samples used to determine the role and impact of genomic rearrangements in a pan cancer pediatric cohort.

  Study EGAS00001005312

• Deciphering RBP - alternative splicing networks in ALS iPSC-MN: patient and control datasets

  We produce RNA-seq datasets of iPSC-derived motor neurons (iPSC-MN) from healthy controls and sporadic ALS patients and controls and familial ALS patients with pathogenic variants in TARDBP.

  Study EGAS00001005879

• CM214 - Biomarker Analysis From the Phase 3 CheckMate 214 Trial of Nivolumab Plus Ipilimumab (N+I) or Sunitinib (S) in Advanced Renal Cell Carcinoma (aRCC)

  CM214 - Biomarker Analysis From the Phase 3 CheckMate 214 Trial of Nivolumab Plus Ipilimumab (N+I) or Sunitinib (S) in Advanced Renal Cell Carcinoma (aRCC)

  Study EGAS00001005501

• De novo mutations in cell-free foetal DNA - Pulldown experiment

  A pulldown experiment with Agilent SureSelect probes designed on regions that were more likely to contain de novo mutations. 266 candidate sites were selected based on whole genome sequencing data. The probes also included the exons of genes that have been identified as neurodevelopmental disorder genes in DDD (the DDG2P genes) 1,336 targets. In addition, the design included the standard iPLEX sites.

  Dataset EGAD00001002265

• Anaplastic Thyroid Cancer aligned whole exome sequence data

  Whole exome sequence data in fastq format was aligned to the GRCH38 reference genome. Aligned sequence was preprocessed with GATK for Indel Realignment and Base Quality Score Recalibration. Duplicates were marked with Picard Mark Duplicates. Aligned sequence is in bam format. Details of the alignment can be found in he bam header. Tumour samples were classified as Anaplastic Thyroid, Poorly-differentiated or well-differentiated cancers.

  Dataset EGAD00001005791

• Single-cell long-read transcriptomes from CH, MDS and AML patients with CH mutations

  Single-cell long-read (ONT) transcriptome sequencing from CH (n = 3), MDS (n = 5, MDS02 in 2 replicates) and AML (n =1, in 2 replicates) samples with mutations in splicing factors (SF3B1 - n = 8, U2AF1 n = 1) or transcription regulators (DNMT3A - CH04). Full length cDNA from 10x Genomics 3' V3.

  Dataset EGAD00001011282

• analysis of the off target effect after Prime editing in IPSC line KCNQ2 R201C. Comparison of parental KCNQ2 R201C with two corrected clonal lines.

  Short read whole genome sequencing analysis of the off target effect after Prime editing in IPSC line KCNQ2 R201C. Comparison of parental KCNQ2 R201C with two corrected clonal lines (3samples in total). Dataset contains CRAM files and VCF files for the respective samples.

  Dataset EGAD00001010904

• Bioinformatics analysis of chimerism in monochorionic dizygotic twins

  We conducted whole-genome sequencing on blood and buccal specimen from a family with chimerism identified in the two monochorionic dizygotic twins. Blood DNA was obtained from all family members. In addition, we obtained buccal specimen from the chimeric twins. Whole-genome sequencing was conducted on Illumina NovaSeq.

  Dataset EGAD00001009508

• Single Cell RNA sequencing of Organoids from TSC2+/- patient IPSCs in H- and L-medium

  This dataset contains single cell RNA sequencing data from Organoids grown in high nutrient (H) and low nutrient (L) medium. Organoids were grown for 110 days. Organoids were grown from a patient IPS cell line with a heterozygous mutation in TSC2 (Patient 1 TSC2+/- iPSCs) and an isogenic control cell line (TSC2+/+).

  Dataset EGAD00001006332