Pages that link to "Q35237008"

The following pages link to CODEX: a normalization and copy number variation detection method for whole exome sequencing (Q35237008):

Displaying 39 items.

• Novel bioinformatic developments for exome sequencing (Q24658618) (← links)
• Detection of Genomic Structural Variants from Next-Generation Sequencing Data (Q28082859) (← links)
• CoNVaDING: Single Exon Variation Detection in Targeted NGS Data (Q31044157) (← links)
• Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2 (Q31120762) (← links)
• Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort (Q31149204) (← links)
• Research progress of neuroblastoma related gene variations (Q33566987) (← links)
• Gene-based comparative analysis of tools for estimating copy number alterations using whole-exome sequencing data (Q33689015) (← links)
• The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk (Q33784408) (← links)
• Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population. (Q33842903) (← links)
• CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing. (Q35995950) (← links)
• Comparison of the Lonidamine Potentiated Effect of Nitrogen Mustard Alkylating Agents on the Systemic Treatment of DB-1 Human Melanoma Xenografts in Mice (Q36048258) (← links)
• Targeted capture in evolutionary and ecological genomics. (Q36771745) (← links)
• Assessing the reproducibility of exome copy number variations predictions (Q37157786) (← links)
• Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. (Q37716314) (← links)
• SynthEx: a synthetic-normal-based DNA sequencing tool for copy number alteration detection and tumor heterogeneity profiling (Q37742390) (← links)
• Exome sequencing of oral squamous cell carcinoma in users of Arabian snuff reveals novel candidates for driver genes. (Q38381880) (← links)
• Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability (Q39230891) (← links)
• ALLELE-SPECIFIC COPY NUMBER ESTIMATION BY WHOLE EXOME SEQUENCING. (Q42277885) (← links)
• Genetic and Genomic Characterization of 462 Melanoma Patient-Derived Xenografts, Tumor Biopsies, and Cell Lines (Q47107803) (← links)
• WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data (Q47286390) (← links)
• Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease (Q47622861) (← links)
• Accounting for GC-content bias reduces systematic errors and batch effects in ChIP-seq data (Q47652803) (← links)
• Integrative pipeline for profiling DNA copy number and inferring tumor phylogeny. (Q50132901) (← links)
• A randomized approach to speed up the analysis of large-scale read-count data in the application of CNV detection (Q51418670) (← links)
• Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients. (Q55498170) (← links)
• Ximmer: A system for improving accuracy and consistency of CNV calling from exome data (Q56887698) (← links)
• DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data (Q57455882) (← links)
• Trends in the characteristics of human functional genomic data on the gene expression omnibus, 2001–2017 (Q57524855) (← links)
• CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing (Q59808850) (← links)
• Increasing the diagnostic yield of exome sequencing by copy number variant analysis (Q60301732) (← links)
• Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance (Q64286985) (← links)
• A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data (Q89450343) (← links)
• Integrative DNA copy number detection and genotyping from sequencing and array-based platforms (Q89542348) (← links)
• Copy number variation analysis increases the diagnostic yield in muscle diseases (Q91603535) (← links)
• Computational Oncology in the Multi-Omics Era: State of the Art (Q92134487) (← links)
• PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes (Q92205128) (← links)
• SeQuiLa-cov: A fast and scalable library for depth of coverage calculations (Q92397619) (← links)
• A machine-learning approach for accurate detection of copy number variants from exome sequencing (Q92571391) (← links)
• Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations (Q92604597) (← links)