Tag: annovar

unable to download latest annovar

Dear All, I received your link for the subject download, but my attempt to download – by clicking on said link – failed with the following html message. The page that you are trying to access cannot be loaded. Due to an internal error, this web page could not be…

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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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Genome Bioinformatics Analyst – Pittsburgh

**Description** UPMC Presbyterian is hiring a Genome Bioinformatics Analyst to join the Molecular and Genomic Pathology Laboratory (MGP) team! This role will work a daylight schedule Monday through Friday. No weekends or holidays are required! The Molecular and Genomic Pathology Laboratory (MGP) is a dynamic state-of-the-art clinical laboratory that prides…

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What is the single nucleotide polymorphism database ( dbsnp )?

The Single Nucleotide Polymorphism Database (dbSNP) is a free public archive for genetic variation within and across different species developed and hosted by the National Center for Biotechnology Information (NCBI) in collaboration with the National Human Genome Research Institute (NHGRI). Furthermore, are there any databases for single nucleotide polymorphisms?As there…

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Bioinformatics Scientist at Infectious Disease Institute

IDI seeks to hire a Bioinformatics Scientist (BS) for the centre. The BS will be a fulltime staff who is familiar with the application of computational and biotechnology capabilities to biomedical and public health problems like genetics, clinical and medical research, as well as other data intensive analyses. By coordinating…

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How to classify the SNPs/gene loci as reported or novel?

How to classify the SNPs/gene loci as reported or novel? 1 I have a big list of significant SNPs (>30K) from a GWAS/meta-analysis. Can you please suggest what are some best ways to find the respective gene names and further classify them as already reported and novel ones? Thanks in…

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Novel DNAAF2 variants cause primary ciliary dyskinesia

Introduction Primary ciliary dyskinesia (PCD, MIM:244400) is a rare genetically heterogeneous disorder.1 It has a variety of clinical manifestations, such as chronic otorhinolaryngological diseases, male and/or female infertility and laterality defects, etc.2,3 More than 50 genes have reported to cause PCD,4 but detailed clinical evaluation has rarely conducted in adult…

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Laniakea@ReCaS: exploring the potential of customisable Galaxy on-demand instances as a cloud-based service | BMC Bioinformatics

Since the opening of the open-ended Call in February 2020 [30], Laniakea@ReCaS has accepted ten project proposals for a total of 18 Galaxy instances operating on the ReCaS infrastructure that altogether launched almost 30 k jobs, as of March 2021 (Fig. 3). Fig. 3 Cumulative number of jobs launched by all the…

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Providence hiring Bioinformatics Scientist 1 in Portland, Oregon, United States

DescriptionProvidence is calling a Bioinformatics Scientist 1 to the Molecular Genomics Lab at Providence Office Park i n Portland, OR. This is a full-time (1.0 FTE), day shift position. This position is a hybrid role between working in the lab and working from home.Apply today! Applicants that meet qualifications will…

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Identify and annotate mutations from genome editing assays

Here we propose our CRISPR-detector to facilitate the CRISPR-edited amplicon and whole genome sequencing data analysis, with functions that existing tools are not able to provide. CRISPR-detector brings the following four key innovations : optimized processing time allowing for hundreds of amplicons or whole genome sequencing data; integrated structural variation…

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How to annotate SNVs in a BAC sequenced by NGS

Hello, I’m trying to annotate variations in NGS data from bacterial artificial chromosomes with respect to the reference sequence. To do this i build a map of the BAC (including vector) and map the NGS reads to this BAC map. I also use a variant caller to find any differences…

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annotating vcf with variant type and variant effect, and most harmful effect

annotating vcf with variant type and variant effect, and most harmful effect 0 Hello, I have a VCF with ~6000 variants. The build is GRCh37. I want to annotate each variant with its type (substitution, deletion, inversion) and its effect (missense, silent, intergenic). If there are competing or multiple effects,…

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Annovar on galaxy v 0.2 is not working

Annovar on galaxy v 0.2 is not working 0 Hello, I have to finish a project for an online course where I need to identify DNA polymorphic sites through galaxy. I want to annotate vcf file generated after free Bayes step. I am new to this analysis part and I…

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Unable to overcome troubles in whole exome analysis

Unable to overcome troubles in whole exome analysis 0 Hi, I am working on whole exome sequencing data whose pipeline has been standardized in the lab as such – Align with bwa-mem –> SortSam based on coordinates with Picard –> MarkDuplicates –> Remove sequencing duplicates –> Variant calling –> BQSR…

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How to get vaf information column using annovartomaf

How to get vaf information column using annovartomaf 0 Hi, I am trying inferHeterogeneity function in R. I converted my annovar output to maf file using annovartomaf according to the toolsheet. But I can not get t_vaf containing vaf information. I also don’t have i_TumorVAF_WU. My annovar output file has…

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How to get vafCol converting annovar outputs to maf object

How to get vafCol converting annovar outputs to maf object 0 Hi, I am trying to find heterogeneity in tumor samples using maftools. I have annovar outputs and converted them to maf object using annovarToMaf function. var.annovar = system.file(“extdata”, “variants.hg19_multianno.txt”, package = “maftools”) var.annovar.maf = annovarToMaf(annovar = var.annovar, Center=”CSI-NUS”, refBuild…

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converting annovar format file to maf by annovarToMaf

converting annovar format file to maf by annovarToMaf 0 Hi, I have annovar format file and want to convert it to maf , and to this aim, I use the annovarToMaf: library(maftools) var.annovar <- system.file(“extdata”, “ann_test.txt”, package = “maftools”) var.annovar.maf <- annovarToMaf(annovar = “ann_test.txt”, Center=”CSI-NUS”, refBuild = ‘hg19’, table=”refGene”, MAFobj…

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Disease Causing Mutations Databases or database for predicting the functional consiquence of the mutation

Disease Causing Mutations Databases or database for predicting the functional consiquence of the mutation 1 I would like to analyze the functional consequence of the mutation in the protein-coding region of the human genome like in TP53 or EGFR etc. I tried Annovar, VEP, SIFT, polyphen, etc but as far…

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Annovar: Mouse database download

Annovar: Mouse database download 1 Hi there, I want to work with specific mouse strain from ucsc browser (A/J) on my annovar. How do I download it? perl annotate_variation.pl -buildver mm10 -downdb -webfrom annovar refGene mousedb –> is for mm10 db I have tried –> perl annotate_variation.pl -buildver 16 Strains…

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Assistant Research Professor – Genomics and Bioinformatics job with City of Hope

About City of Hope City of Hope, an innovative biomedical research, treatment and educational institution with over 6000 employees, is dedicated to the prevention and cure of cancer and other life-threatening diseases and guided by a compassionate, patient-centered philosophy. Founded in 1913 and headquartered in Duarte, California, City of Hope…

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