normal phenotype

Aliases

control, normals

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Mentioned in (46)

Papers in which this entity is mentioned.

• Multigenerational cell tracking of DNA replication and heritable DNA damage. (2025)
• Three-dimensional genome landscape of primary human cancers. (2025)
• Cell-Free DNA Fragmentomics: The Novel Promising Biomarker. (2023)
• Spatially resolved whole transcriptome profiling in human and mouse tissue using Digital Spatial Profiling. (2022)
• Detecting cell-of-origin and cancer-specific methylation features of cell-free DNA from Nanopore sequencing. (2022)
• Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers. (2022)
• Accucopy: accurate and fast inference of allele-specific copy number alterations from low-coverage low-purity tumor sequencing data. (2021)
• Infant Cardiac Orienting Responses Predict Later FASD in the Preschool Period. (2021)
• Use of Telemedicine for the Physical Examination of Children With Fetal Alcohol Spectrum Disorders. (2021)
• Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes. (2021)
• Accucopy: Accurate and Fast Inference of Allele-specific Copy Number Alterations from Low-coverage Low-purity Tumor Sequencing Data (2020)
• Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. (2020)
• Ploidy- and Purity-Adjusted Allele-Specific DNA Analysis Using CLONETv2. (2019)
• VCF2CNA: A tool for efficiently detecting copy-number alterations in VCF genotype data and tumor purity. (2019)
• Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
• Accurity: accurate tumor purity and ploidy inference from tumor-normal WGS data by jointly modelling somatic copy number alterations and heterozygous germline single-nucleotide-variants. (2018)
• Driver Fusions and Their Implications in the Development and Treatment of Human Cancers. (2018)
• Genome-wide somatic variant calling using localized colored de Bruijn graphs. (2018)
• Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome. (2018)
• SvABA: genome-wide detection of structural variants and indels by local assembly. (2018)
• The Use of Cardiac Orienting Responses as an Early and Scalable Biomarker of Alcohol-Related Neurodevelopmental Impairment. (2017)
• XBSeq2: a fast and accurate quantification of differential expression and differential polyadenylation. (2017)
• Extrachromosomal oncogene amplification drives tumour evolution and genetic heterogeneity. (2017)
• Fragment Length of Circulating Tumor DNA. (2016)
• Landscape of somatic mutations in 560 breast cancer whole-genome sequences. (2016)
• FACETS: allele-specific copy number and clonal heterogeneity analysis tool for high-throughput DNA sequencing. (2016)
• Development and clinical application of an integrative genomic approach to personalized cancer therapy. (2016)
• The landscape of long noncoding RNAs in the human transcriptome. (2015)
• Reconstructing A/B compartments as revealed by Hi-C using long-range correlations in epigenetic data. (2015)
• MBASED: allele-specific expression detection in cancer tissues and cell lines. (2014)
• Maternal risk factors for fetal alcohol spectrum disorders in a province in Italy. (2014)
• Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine. (2014)
• Dynamic analyses of alternative polyadenylation from RNA-seq reveal a 3'-UTR landscape across seven tumour types. (2014)
• TITAN: inference of copy number architectures in clonal cell populations from tumor whole-genome sequence data. (2014)
• THetA: inferring intra-tumor heterogeneity from high-throughput DNA sequencing data. (2013)
• A comparative analysis of algorithms for somatic SNV detection in cancer. (2013)
• Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. (2013)
• Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data. (2012)
• Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data. (2012)
• VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. (2012)
• Summarizing and correcting the GC content bias in high-throughput sequencing. (2012)
• Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. (2011)
• Cleft lip and palate results from Hedgehog signaling antagonism in the mouse: Phenotypic characterization and clinical implications. (2010)
• rSW-seq: algorithm for detection of copy number alterations in deep sequencing data. (2010)
• BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. (2009)
• Copy-number-variation and copy-number-alteration region detection by cumulative plots. (2009)

Merged raw entities (2)

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