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124 results for “Somatic mutations”
Low-frequency somatic mutations are heritable in tropical trees Dicorynia guianensis and Sextonia rubra
<p>Somatic mutations potentially play a role in plant evolution, but common expectations pertaining to plant somatic mutation remain insufficiently tested. Unlike in most animals, the plant germline is assumed to be set aside late in development, leading to the expectation that plants accumulate somatic mutations along growth. Therefore, several predictions were made on the fate of somatic mutations: mutations have generally low frequency in plant tissues; mutations at high frequency have a higher chance of intergenerational transmission; branching topology of the tree dictates mutation distribution; and, exposure to UV radiation increases mutagenesis. To provide new insights into mutation accumulation and transmission in plants, we produced two high-quality reference genomes and a unique dataset of 60 high-coverage whole-genome sequences of two tropical tree species, <i>Dicorynia guianensis</i> (Fabaceae) and <i>Sextonia rubra </i>(Lauraceae). We identified 15,066 <i>de novo</i> somatic mutations in <i>D. guianensis</i> and 3,208 in <i>S. rubra</i>, surprisingly almost all found at low frequency. We demonstrate that: 1) low-frequency mutations can be transmitted to the next generation; 2) mutation phylogenies deviate from the branching topology of the tree; and 3) mutation rates and mutation spectra are not demonstrably affected by differences in UV exposure. Altogether, our results suggest far more complex links between plant growth, ageing, UV exposure, and mutation rates than commonly thought.</p>
Prediction of metabolites associated with somatic mutations in cancers
<ul> <li>GEMs_AML: 16 acute myeloid leukemia (AML) patient-specific genome-scale metabolic models (GEMs) reconstructed using their corresponding RNA-seq data and Recon 2M.2</li> <li>GEMs_PCAWG: 943 cancer patient-specific GEMs for 24 different cancer types reconstructed using the Pan-Cancer Analysis of Whole Genomes (PCAWG) RNA-seq data and generic human GEM 'Recon 2M.2'</li> <li>GEMs_RCC: 20 renal cell carcinoma (RCC) patient-specific GEMs reconstructed using their corresponding RNA-seq data and Recon 2M.2</li> <li>GEMs_TCGA_LAML: 113 AML patient-specific GEMs reconstructed using The Cancer Genome Atlas (TCGA) LAML RNA-seq data and Recon 2M.2</li> </ul>
Haplotype-aware reference genome reveals hidden somatic mutations of sweet orange
<p><strong>Filename: </strong>ASE_in_five_fruit_development.txt</p> <p><strong>Description: </strong>Based on our haplotype sequences, we confirmed biallelic genes showed significant expression difference between two alleles in at least one fruit developmental stage. We collected the RNA-seq data from fruit of Newhall navel orange at five developmental stages (90, 120, 150, 180 and 210 days after bloom). RNA-seq data from previous project GSE108930 in NCBI database.</p> <p> </p> <p><strong>Filename: </strong>Biallelic_genes_haplogenomes.tsv</p> <p><strong>Description: </strong>The biallelic genes were identified using the Genespace program.</p> <p> </p> <p><strong>Filename: </strong>Haplogenomes_CENH3_chip_peaks.bw</p> <p><strong>Description: </strong>The CENH3 sequences were collected from BankIt ID 2305947. These reads (including the input library as a control) were aligned to the two assembled haplotypes using Bowtie2 (v2.5.1) with default parameters. MACS2 (v2.2.7.1) with the additional parameters “-f BAM -ghs -B -q 0.01” was used to perform peak calling. The peaks generated from CENH3 chip-seq.</p> <p> </p> <p><strong>Filename: </strong>Haplogenomes_Control_chip_peaks.bw</p> <p><strong>Description:</strong> The peaks generated from Control chip-seq.</p> <p> </p> <p><strong>Filename: </strong>Haplotype_based_79accessions_somatic_variations.vcf</p> <p><strong>Description: </strong>The small somatic variations generated based on the haplotype-based method. The derived somatic mutations were identified based on nine samples from the outgroup (Earlier Clade I).</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_CuteSV.vcf</p> <p><strong>Description: </strong>The HiFi reads were mapped to haplotype A. We called SVs using the CuteSV program.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_gene_function_annotation.tsv</p> <p><strong>Description: </strong>The gene annotations of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_gene_model.gff3</p> <p><strong>Description:</strong> The gene structure model of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_genome.fa</p> <p><strong>Description:</strong> The genome sequences of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_PEPPER_OUTPUT.zip</p> <p><strong>Description: </strong>The small variations of sweet orange using the haplotype A as the reference genome.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_TEs_annotation.gff3</p> <p><strong>Description:</strong> The TE annotations of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_gene_function_annotation.tsv</p> <p><strong>Description:</strong> The gene annotations of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_gene_model.gff3</p> <p><strong>Description:</strong> The gene structure model of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_genome.fa</p> <p><strong>Filename: </strong>ASE_in_five_fruit_development.txt</p> <p><strong>Description: </strong>Based on our haplotype sequences, we confirmed biallelic genes showed significant expression difference between two alleles in at least one fruit developmental stage. We collected the RNA-seq data from fruit of Newhall navel orange at five developmental stages (90, 120, 150, 180 and 210 days after bloom). RNA-seq data from previous project GSE108930 in NCBI database.</p> <p> </p> <p><strong>Filename: </strong>Biallelic_genes_haplogenomes.tsv</p> <p><strong>Description: </strong>The biallelic genes were identified using the Genespace program.</p> <p> </p> <p><strong>Filename: </strong>Haplogenomes_CENH3_chip_peaks.bw</p> <p><strong>Description: </strong>The CENH3 sequences were collected from BankIt ID 2305947. These reads (including the input library as a control) were aligned to the two assembled haplotypes using Bowtie2 (v2.5.1) with default parameters. MACS2 (v2.2.7.1) with the additional parameters “-f BAM -ghs -B -q 0.01” was used to perform peak calling. The peaks generated from CENH3 chip-seq.</p> <p> </p> <p><strong>Filename: </strong>Haplogenomes_Control_chip_peaks.bw</p> <p><strong>Description:</strong> The peaks generated from Control chip-seq.</p> <p> </p> <p><strong>Filename: </strong>Haplotype_based_79accessions_somatic_variations.vcf</p> <p><strong>Description: </strong>The small somatic variations generated based on the haplotype-based method. The derived somatic mutations were identified based on nine samples from the outgroup (Earlier Clade I).</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_CuteSV.vcf</p> <p><strong>Description: </strong>The HiFi reads were mapped to haplotype A. We called SVs using the CuteSV program.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_gene_function_annotation.tsv</p> <p><strong>Description: </strong>The gene annotations of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_gene_model.gff3</p> <p><strong>Description:</strong> The gene structure model of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_genome.fa</p> <p><strong>Description:</strong> The genome sequences of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_PEPPER_OUTPUT.zip</p> <p><strong>Description: </strong>The small variations of sweet orange using the haplotype A as the reference genome.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_TEs_annotation.gff3</p> <p><strong>Description:</strong> The TE annotations of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_gene_function_annotation.tsv</p> <p><strong>Description:</strong> The gene annotations of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_gene_model.gff3</p> <p><strong>Description:</strong> The gene structure model of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_genome.fa</p> <p><strong>Description:</strong> The genome sequences of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_TEs_annotation.gff3</p> <p><strong>Description:</strong> The TE annotations of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>Single_reference_87accessions_somatic_variations.vcf</p> <p><strong>Description:</strong> The small somatic variations generated based on the single reference genome (Haplotype A).</p> <p> </p> <p><strong>Filename: </strong>Somatic_material_RNA_seq_matrix.txt</p> <p><strong>Description: </strong>The expression matrix of BT_3 and BT_5 (a set of somatic mutation material).</p> <p> </p> <p><strong>Filename: </strong>ASE_in_five_fruit_development.txt</p> <p><strong>Description: </strong>Based on our haplotype sequences, we confirmed biallelic genes showed significant expression difference between two alleles in at least one fruit developmental stage. We collected the RNA-seq data from fruit of Newhall navel orange at five developmental stages (90, 120, 150, 180 and 210 days after bloom). RNA-seq data from previous project GSE108930 in NCBI database.</p> <p> </p> <p><strong>Filename: </strong>Biallelic_genes_haplogenomes.tsv</p> <p><strong>Description: </strong>The biallelic genes were identified using the Genespace program.</p> <p> </p> <p><strong>Filename: </strong>Haplogenomes_CENH3_chip_peaks.bw</p> <p><strong>Description: </strong>The CENH3 sequences were collected from BankIt ID 2305947. These reads (including the input library as a control) were aligned to the two assembled haplotypes using Bowtie2 (v2.5.1) with default parameters. MACS2 (v2.2.7.1) with the additional parameters “-f BAM -ghs -B -q 0.01” was used to perform peak calling. The peaks generated from CENH3 chip-seq.</p> <p> </p> <p><strong>Filename: </strong>Haplogenomes_Control_chip_peaks.bw</p> <p><strong>Description:</strong> The peaks generated from Control chip-seq.</p> <p> </p> <p><strong>Filename: </strong>Haplotype_based_79accessions_somatic_variations.vcf</p> <p><strong>Description: </strong>The small somatic variations generated based on the haplotype-based method. The derived somatic mutations were identified based on nine samples from the outgroup (Earlier Clade I).</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_CuteSV.vcf</p> <p><strong>Description: </strong>The HiFi reads were mapped to haplotype A. We called SVs using the CuteSV program.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_gene_function_annotation.tsv</p> <p><strong>Description: </strong>The gene annotations of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_gene_model.gff3</p> <p><strong>Description:</strong> The gene structure model of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_genome.fa</p> <p><strong>Description:</strong> The genome sequences of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_PEPPER_OUTPUT.zip</p> <p><strong>Description: </strong>The small variations of sweet orange using the haplotype A as the reference genome.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_TEs_annotation.gff3</p> <p><strong>Description:</strong> The TE annotations of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_gene_function_annotation.tsv</p> <p><strong>Description:</strong> The gene annotations of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_gene_model.gff3</p> <p><strong>Description:</strong> The gene structure model of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_genome.fa</p> <p><strong>Description:</strong> The genome sequences of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_TEs_annotation.gff3</p> <p><strong>Description:</strong> The TE annotations of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>Single_reference_87accessions_somatic_variations.vcf</p> <p><strong>Description:</strong> The small somatic variations generated based on the single reference genome (Haplotype A).</p> <p> </p> <p><strong>Filename: </strong>Somatic_material_RNA_seq_matrix.txt</p> <p><strong>Description: </strong>The expression matrix of BT_3 and BT_5 (a set of somatic mutation material).</p> <p> </p> <p><strong>Filename: </strong>ASE_in_five_fruit_development.txt</p> <p><strong>Description: </strong>Based on our haplotype sequences, we confirmed biallelic genes showed significant expression difference between two alleles in at least one fruit developmental stage. We collected the RNA-seq data from fruit of Newhall navel orange at five developmental stages (90, 120, 150, 180 and 210 days after bloom). RNA-seq data from previous project GSE108930 in NCBI database.</p> <p> </p> <p><strong>Filename: </strong>Biallelic_genes_haplogenomes.tsv</p> <p><strong>Description: </strong>The biallelic genes were identified using the Genespace program.</p> <p> </p> <p><strong>Filename: </strong>Haplogenomes_CENH3_chip_peaks.bw</p> <p><strong>Description: </strong>The CENH3 sequences were collected from BankIt ID 2305947. These reads (including the input library as a control) were aligned to the two assembled haplotypes using Bowtie2 (v2.5.1) with default parameters. MACS2 (v2.2.7.1) with the additional parameters “-f BAM -ghs -B -q 0.01” was used to perform peak calling. The peaks generated from CENH3 chip-seq.</p> <p> </p> <p><strong>Filename: </strong>Haplogenomes_Control_chip_peaks.bw</p> <p><strong>Description:</strong> The peaks generated from Control chip-seq.</p> <p> </p> <p><strong>Filename: </strong>Haplotype_based_79accessions_somatic_variations.vcf</p> <p><strong>Description: </strong>The small somatic variations generated based on the haplotype-based method. The derived somatic mutations were identified based on nine samples from the outgroup (Earlier Clade I).</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_CuteSV.vcf</p> <p><strong>Description: </strong>The HiFi reads were mapped to haplotype A. We called SVs using the CuteSV program.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_gene_function_annotation.tsv</p> <p><strong>Description: </strong>The gene annotations of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_gene_model.gff3</p> <p><strong>Description:</strong> The gene structure model of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_genome.fa</p> <p><strong>Description:</strong> The genome sequences of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_PEPPER_OUTPUT.zip</p> <p><strong>Description: </strong>The small variations of sweet orange using the haplotype A as the reference genome.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_TEs_annotation.gff3</p> <p><strong>Description:</strong> The TE annotations of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_gene_function_annotation.tsv</p> <p><strong>Description:</strong> The gene annotations of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_gene_model.gff3</p> <p><strong>Description:</strong> The gene structure model of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_genome.fa</p> <p><strong>Description:</strong> The genome sequences of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_TEs_annotation.gff3</p> <p><strong>Description:</strong> The TE annotations of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>Single_reference_87accessions_somatic_variations.vcf</p> <p><strong>Description:</strong> The small somatic variations generated based on the single reference genome (Haplotype A).</p> <p> </p> <p><strong>Filename: </strong>Somatic_material_RNA_seq_matrix.txt</p> <p><strong>Description: </strong>The expression matrix of BT_3 and BT_5 (a set of somatic mutation material).</p> <p><strong>Filename: </strong>ASE_in_five_fruit_development.txt</p> <p><strong>Description: </strong>Based on our haplotype sequences, we confirmed biallelic genes showed significant expression difference between two alleles in at least one fruit developmental stage. We collected the RNA-seq data from fruit of Newhall navel orange at five developmental stages (90, 120, 150, 180 and 210 days after bloom). RNA-seq data from previous project GSE108930 in NCBI database.</p> <p> </p> <p><strong>Filename: </strong>Biallelic_genes_haplogenomes.tsv</p> <p><strong>Description: </strong>The biallelic genes were identified using the Genespace program.</p> <p> </p> <p><strong>Filename: </strong>Haplogenomes_CENH3_chip_peaks.bw</p> <p><strong>Description: </strong>The CENH3 sequences were collected from BankIt ID 2305947. These reads (including the input library as a control) were aligned to the two assembled haplotypes using Bowtie2 (v2.5.1) with default parameters. MACS2 (v2.2.7.1) with the additional parameters “-f BAM -ghs -B -q 0.01” was used to perform peak calling. The peaks generated from CENH3 chip-seq.</p> <p> </p> <p><strong>Filename: </strong>Haplogenomes_Control_chip_peaks.bw</p> <p><strong>Description:</strong> The peaks generated from Control chip-seq.</p> <p> </p> <p><strong>Filename: </strong>Haplotype_based_79accessions_somatic_variations.vcf</p> <p><strong>Description: </strong>The small somatic variations generated based on the haplotype-based method. The derived somatic mutations were identified based on nine samples from the outgroup (Earlier Clade I).</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_CuteSV.vcf</p> <p><strong>Description: </strong>The HiFi reads were mapped to haplotype A. We called SVs using the CuteSV program.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_gene_function_annotation.tsv</p> <p><strong>Description: </strong>The gene annotations of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_gene_model.gff3</p> <p><strong>Description:</strong> The gene structure model of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_genome.fa</p> <p><strong>Description:</strong> The genome sequences of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_PEPPER_OUTPUT.zip</p> <p><strong>Description: </strong>The small variations of sweet orange using the haplotype A as the reference genome.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeA_TEs_annotation.gff3</p> <p><strong>Description:</strong> The TE annotations of haplotype A.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_gene_function_annotation.tsv</p> <p><strong>Description:</strong> The gene annotations of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_gene_model.gff3</p> <p><strong>Description:</strong> The gene structure model of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_genome.fa</p> <p><strong>Description:</strong> The genome sequences of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_TEs_annotation.gff3</p> <p><strong>Description:</strong> The TE annotations of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>Single_reference_87accessions_somatic_variations.vcf</p> <p><strong>Description:</strong> The small somatic variations generated based on the single reference genome (Haplotype A).</p> <p> </p> <p><strong>Filename: </strong>Somatic_material_RNA_seq_matrix.txt</p> <p><strong>Description: </strong>The expression matrix of BT_3 and BT_5 (a set of somatic mutation material).</p> <p><strong>Description:</strong> The genome sequences of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>HaplotypeB_TEs_annotation.gff3</p> <p><strong>Description:</strong> The TE annotations of haplotype B.</p> <p> </p> <p><strong>Filename: </strong>Single_reference_87accessions_somatic_variations.vcf</p> <p><strong>Description:</strong> The small somatic variations generated based on the single reference genome (Haplotype A).</p> <p> </p> <p><strong>Filename: </strong>Somatic_material_RNA_seq_matrix.txt</p> <p><strong>Description: </strong>The expression matrix of BT_3 and BT_5 (a set of somatic mutation material).</p>
Basket Study of Neratinib in Participants With Solid Tumors Harboring Somatic HER2 or EGFR Exon 18 Mutations
ClinicalTrials.gov study NCT01953926. IPD Sharing: YES. Countries: 13. Publications: 10.
Data from: Inheritance of somatic mutations can affect fitness in monkeyflowers
Open the record for dataset details and reuse information.
Somatic mutations alter the differentiation outcomes of iPSC-derived neurons (Metadata and AnnData/H5AD files)
<p><strong>Data S1:</strong> Metadata information for the 828,937 processed cells from the DN dataset: donor identity, cell type annotation, pool identifier, 10x sample, time point and replicate information. Related to STAR Methods: Reanalysis of pooled single-cell data (DA).</p> <p><strong>Data S2-S4:</strong> AnnData/H5AD files containing the single-cell gene expression matrices and the metadata for day 11, day 30 and day 52, respectively. The gene expression is normalised and log-transformed, but not scaled. md5 files are also included. Related to STAR Methods: DE analysis between failed and successful lines.</p> <p>#File names:</p> <p><strong>File-Data S1: </strong>suppData1.RDS</p> <p><strong>File-Data S2: </strong>allpools.scanpy.D11.wMetaClustUmapGraph.exprLogNormNotScaled_notKO.h5ad</p> <p><strong>File-Data S3: </strong>allpools.scanpy.D30.wMetaClustUmapGraph.exprLogNormNotScaled_notKO.h5ad</p> <p><strong>File-Data S4: </strong>allpools.scanpy.D52.wMetaClustUmapGraph.exprLogNormNotScaled_notKO.h5ad</p>
Common anti-cancer therapies induce somatic mutations in stem cells of healthy tissue
<p>Genome-wide mutation analyses have revealed that specific anti-cancer drugs are highly mutagenic to cancer cells, but the mutational impact of anti-cancer therapies on normal cells is not known. Here, we examine genome-wide somatic mutation patterns in 42 healthy adult stem cells (ASCs) of the colon or the liver from 14 colorectal cancer patients (mean of 3.2 ASC per donor) that received systemic chemotherapy and/or radiotherapy. The platinum-based chemo-drug Oxaliplatin induces on average 535±260 mutations in colon ASC, while 5-FU shows a complete mutagenic absence in most colon ASCs. In contrast with the colon, normal liver ASCs escape mutagenesis from systemic treatment. Radiation results in the accumulation of 50-100 5-10,000bp deletions and structural rearrangements in colon ASCs. Thus, while chemotherapies are highly effective at killing cancer cells, their systemic use also increases the mutational burden of long-lived normal stem cells responsible for tissue renewal thereby increasing the risk for developing second cancers.</p>
A multiscale functional map of somatic mutations in cancer integrating protein structure and network topology
<p>Source Data and Supplementary Data associated with the paper “A multiscale functional map of somatic mutations in cancer integrating protein structure and network topology” (DOI: https://doi.org/10.1101/2023.03.06.531441).</p>
Research data supporting article "Somatic mutation rates scale with lifespan across mammals"
<p>Data files supporting analyses described in the article "Somatic mutation rates scale with lifespan across mammals" (Cagan, Baez-Ortega et al., 2022).</p>
DATA for manuscript entitled "Integrating Transcriptomes and Somatic Mutations to Identify RNA Methylation Regulators as a Prognostic Marker in Hepatocellular Carcinomas"
<p><strong>Raw data of TCGA dataset and 7-meta data.</strong></p>
A comparative analysis of somatic mutations occurring at "common" loci and other loci with the TCGA somatic mutation dataset.
<p>A comparative analysis of somatic mutations occurring at "common" loci and other loci with the TCGA somatic mutation dataset.</p>
Supplementary videos for the article "Simulation of Somatic Evolution Through the Introduction of Random Mutation to the Rules of Conway's Game of Life"
<p><strong>List of Supplementary Videos:</strong><strong> </strong></p> <p><strong>Supplementary Video 1:</strong> Animation of simulation run in the absence of mutation (mutation rate = 0).</p> <p><strong>Supplementary Video 2:</strong> Animation of simulation run with mutation rate = 0.01 and mutation magnitude = 1.0.</p> <p><strong>Supplementary Video 3:</strong> Animation of simulation run with mutation rate = 0.05 and mutation magnitude = 6.0.</p> <p><strong>Supplementary Video 4:</strong> Animation of simulation run with a mutation rate = 0.01 and a mutation magnitude = 5.0.</p> <p><strong>Supplementary Video 5:</strong> Animation of simulation run with a mutation rate = 0.05 and a mutation magnitude = 0.5.</p> <p><strong>Supplementary Video 6:</strong> Animation of simulation run with a mutation rate = 0.05 and a mutation magnitude = 1.0.</p> <p><strong>Supplementary Video 7:</strong> Animation of simulation run with a mutation rate =0.4 and a mutation magnitude = 1.5.</p> <p><strong>Supplementary Video 8:</strong> Animation of simulation run with a mutation rate =0.1 and a mutation magnitude = 0.5.</p>
Simulation data for "Conbase: a software for unsupervised discovery of clonal somatic mutations in single cells through read phasing"
<p>Simulation data used in analysis of single cell variant calling softwares in manuscript "Conbase: a software for unsupervised discovery of clonal somatic mutations in single cells through read phasing"</p> <p>Two sets of simulation experiments were performed, one with varying sequencing depth (simulation.tar.gz) and one with a fixed depth at 30 (simulation_fixedDP.tar.gz).</p> <p> </p>
Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations
ClinicalTrials.gov study NCT02761473. IPD Sharing: NO. Countries: 1. Publications: 4.
Evaluation of Somatic Mutation Spectrum as Biomarker for Survival Outcome in Chinese CRC
ClinicalTrials.gov study NCT04228614. IPD Sharing: Not stated. Countries: 1. Publications: 6.
Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository
ClinicalTrials.gov study NCT03901521. IPD Sharing: YES. Countries: 1. Publications: 7.
Lynch Syndrome Can be Diagnosed Just From Somatic Mismatch Repair Mutation
ClinicalTrials.gov study NCT04516083. IPD Sharing: UNDECIDED. Countries: 1. Publications: 3.
Data from: Somatic deleterious mutation rate in a woody plant: estimation from phenotypic data
Open the record for dataset details and reuse information.
[DATA_SCIENCE] Interviews: The Catalogue of Somatic Mutations in Cancer (COSMIC)
<p>This is a set of interview transcripts executed by Niccolò Tempini between May 2016 and July 2017, as part of the ERC project "The Epistemology of Data-Intensive Science", and in the context of a case study of COSMIC. Please read the "Notes on transcript editing" document for further information.</p> <p>Papers that specifically make use of these interviews and have been published as of February 2021:</p> <ul> <li> <p>Tempini, N., 2020. Data curation-research: practices of data standardization and exploration in a precision medicine database. New Genetics and Society. <a href="https://doi.org/10.1080/14636778.2020.1853513">https://doi.org/10.1080/14636778.2020.1853513</a></p> </li> <li> <p>Tempini, N., Leonelli, S., 2021. Actionable Data for Precision Oncology: Framing Trustworthy Evidence for Exploratory Research and Clinical Diagnostics. Social Science & Medicine. <a href="https://doi.org/10.1016/j.socscimed.2021.113760">https://doi.org/10.1016/j.socscimed.2021.113760</a></p> </li> </ul> <p>The transcripts document COSMIC researchers' experience of infrastructure development and data curation and re-use practices. Researchers have consented to have these transcripts made available as Open Data. Other interviewees did not give consent, so those transcripts are held securely by the research team in Exeter.<br> You also find the information sheet provided to interviewees, which gives you the context for this project. Further information and related publications can be found at www.datastudies.eu.</p>
Inferring clonal somatic mutations directed by X chromosome inactivation status in single cells
<p>This repository contains large files for the reproduction of results described in the manuscript <strong>Inferring clonal somatic mutations directed by X chromosome inactivation status in single cells</strong>.</p>
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