Tag: cnv

CNV calling for wgs of S. pombe

CNV calling for wgs of S. pombe 0 Hi, Can anyone help to do CNV calling of WGS data of S.Pombe? I have 1 normal sample and 3 samples treated with a suppressor. I used Control-FREEC but did not get the right result. Can anyone help, how to do germline…

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Comparison of CNV analysis methods: Array CGH vs NGS

Rare genetic disorders are caused by variants in major functional genes. Most are SNV or INDEL variants, but SVs, such as CNVs or chromosomal variants, can also be the cause. Recently, a large-scale study has also been published showing that CNVs were identified in 11-12% more infants and children with…

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A genomic mutation spectrum of collecting duct carcinoma in the Chinese population

This article was originally published here BMC Med Genomics. 2022 Jan 3;15(1):1. doi: 10.1186/s12920-021-01143-2. ABSTRACT BACKGROUND: Renal collecting duct carcinoma (CDC) is a rare and lethal subtype of renal cell carcinoma (RCC). The genomic profile of the Chinese population with CDC remains unclear. In addition, clinical treatments are contradictory. In…

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Reliability of Cell-Free DNA (cfDNA) Next Generation Sequencing in Predicting Chromosomal Structural Abnormalities and Cytogenetic-Risk Stratification of Patients with Myeloid Neoplasms

Oral and Poster Abstracts 617. Acute Myeloid Leukemias: Biomarkers, Molecular Markers and Minimal Residual Disease in Diagnosis and Prognosis: Poster III Translational Research Maher Albitar, MD1*, Andrew Ip, MD, MSc2, Andre H. Goy, MD3*, Jeffrey Justin Estella, BS, MS1*, Ivan De Dios, BS1*,…

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Single-cell DNA and RNA sequencing reveals the dynamics of intra-tumor heterogeneity in a colorectal cancer model | BMC Biology

Organoid culture of small intestinal cells and lentiviral transduction C57BL/6J mice and BALB/cAnu/nu immune-deficient nude mice were purchased from CLEA Japan (Tokyo, Japan). The small intestine was harvested from wild-type male C57BL/6J mice at 3–5 weeks of age (Additional file 1: Figure S9A). Crypts were purified and dissociated into single cells,…

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which tool can I use to detect CNVs?

which tool can I use to detect CNVs? 0 Hi everyone, I have performed target sequencing on tumour samples (with MiSeq, Illumina). I must perform CNV detection, which tool do you suggest me to use ? (I do not have the normal samples, only tumour samples). Thanks, Elisa calling CNV…

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ABOUT affymetrix genotyping console (GTC) software and TCGA CNV workflow

ABOUT affymetrix genotyping console (GTC) software and TCGA CNV workflow 0 The TCGA CNV workflow uses Birdsuite to estimate raw copy number (CN). The affymetrix genotyping console (GTC) use similar algorithm developed by broad. Is GTC used to estimate raw CN, too? Otherwise, could GTC output files that could be…

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Is it possible to report the allele frequency of integer copy numbers >= 3?

Is it possible to report the allele frequency of integer copy numbers >= 3? 0 I am using cn.mops which reports integer CNV for samples (eg CN1, CN3, CN4, CN5, etc.) I hope to report haplotype frequency of detected CNVs, but I am struggling to understand if this is possible….

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getting different value list from GATK gc content and CANOES

getting different value list from GATK gc content and CANOES 0 I was trying to run codes from this paper “A machine-learning approach for accurate detection of copy-number variants from exome sequencing” I need to get data from GATK GC content and CANOES and combined them, but I got a…

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HRD score LST?

HRD score LST? 1 I am confused about the calculation of LST score for the HRD score. Looking at the description of such a package that does this calculation (scarHRD): In the LST figure B, I don’t understand why the 2nd “X” in chromosome 1 is marked as an “X”….

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Principal Software Engineer 1 – Bioinformatics Job in California

Summary: Our engineering team specializes in developing a fast and accurate FPGA-accelerated platform called DRAGEN, for the secondary analysis of NGS data. Team activities are two-fold: 1) algorithm design of analysis methods to discover variants, and, 2) highly-efficient HW/SW implementation for fast run time. The platform covers a wide…

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InferCNV how to choose the right reference?

InferCNV how to choose the right reference? 1 Hello everyone! Could you help me to choose the correct reference for scRNA data if I need to identify CNVs among the malignant clusters that are represented as immune cells with an epithelial phenotype (CTC). What is more correct to take healthy…

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Your reference doesn’t appear to be indexed. Please run the mkref tool.

cellranger-dna: Your reference doesn’t appear to be indexed. Please run the mkref tool. 1 I received the following error when running cellranger-dna: “Your reference doesn’t appear to be indexed. Please run the mkref tool”. The reference that I used was downloaded from 10X database. I thought the reference was already…

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From idat Illumina Infinium MethylationEPIC to CNV analysis for homo/hetero-zigous deletion

From idat Illumina Infinium MethylationEPIC to CNV analysis for homo/hetero-zigous deletion 0 Hi, My group works on cancer and we have difficulty on a little part of our last project about malignant pleuric mesothelioma. I’m looking for help in the analysis of .idat from genome-wide DNA methylation profiles obtained via…

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Dissecting Cancer with Single-cell DNA Sequencing & Multi-omics | Learning Center

CANCER & SINGLE-CELL ANALYSIS The heterogeneity and dynamism of cancer present formidable challenges to understanding and treating the disease. As discussed in the last section, tumor evolution often leads to considerable genetic variation across clones. But the complexity of tumors does not stop at the level of DNA. Intratumoral phenotypic…

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gender determination and chrX CN calls

gender determination and chrX CN calls 1 I’m running CNVKit in amplicon mode on a set of tumor bam files generated with a small amplicon panel of 45 genes. The panel includes just one gene on chrX, and none on chrY. My reference is generated by 10 normal male samples…

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Default CNV call thresholds for haplotype chromosome s

Default CNV call thresholds for haplotype chromosome s 0 Hi, I confuse a topic that about the CNV call. The default thresholds are -1.1 => 0, -0.25 => 1, 0.2 => 2, 0.7 => 3 for discrete copy number. But these thresholds doesn’t work for chrY and chrX. What is…

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