Tag: GenomeStudio
Specialty Genomics Bioinformatics Scientist I (Production) Job Opening in Indianapolis, IN at Labcorp Drug Development – USA
Job Description: If you are looking for a company where you can gain exposure to a wide variety of science and explore a multitude of career paths across the drug development spectrum, consider working at Labcorp Drug Development as a Bioinformatics Scientist I (Prod). In this role, you will join…
SNP concordance between NGS and SNParray
SNP concordance between NGS and SNParray 0 Hi, I have a sample ran with Illumina SNParray and WES, and I need to compare their data. What is the best method to compare them? I was trying using the VCF: From WES data I created a VCF, but from SNParray data…
Manifest Reference Strand
Manifest Reference Strand 0 Hi I am trying to generate a vcf from SNP array data (genomestudio). So far I can convert to plink format from genomestudio and create a vcf via plink2 commands: plink2 \ –pedmap gs-out-plink \ –make-pgen \ –sort-vars \ –merge-x \ –out test-1 then: plink2 \…
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
Patients recruitment and interviews We included a total of 90 patients from 38 Sudanese families in this study with the following inclusion criteria: 1. Patients presenting with symptoms, signs, and/or history suggestive of SCD. 2. Non-genetic causes that can mimic neurological illnesses that resemble SCD due to pregnancy- or birth-related…
Resources to learn illumina’s GenomeStudio?
Resources to learn illumina’s GenomeStudio? 1 Hi All, I need to process a SNP genotype data from illumina’s raw IDAT file, I have done some research and it seem that the first layer of processing require analysis through GenomeStudio.. But how can I begin to learn how to use GenomeStudio…
Bioconductor – lumi
DOI: 10.18129/B9.bioc.lumi This package is for version 3.12 of Bioconductor; for the stable, up-to-date release version, see lumi. BeadArray Specific Methods for Illumina Methylation and Expression Microarrays Bioconductor version: 3.12 The lumi package provides an integrated solution for the Illumina microarray data analysis. It includes functions of Illumina…
The ENmix DNA methylation analysis pipeline for Illumina BeadChip and comparisons with seven other preprocessing pipelines | Clinical Epigenetics
Methylation analysis pipelines The ENmix pipeline performs data preprocessing in a stepwise way, including ENmix background correction [1], RELIC dye bias correction [3], optional inter-array normalization, RCP probe-type bias correction [2], quality control, filtering of low-quality data points, and imputation. ENmix background correction employs a mixture of exponential and truncated…
ENHANCED GRAVITROPISM 2 encodes a STERILE ALPHA MOTIF–containing protein that controls root growth angle in barley and wheat
Significance To date, the potential of utilizing root traits in plant breeding remains largely untapped. In this study, we cloned and characterized the ENHANCED GRAVITROPISM2 (EGT2) gene of barley that encodes a STERILE ALPHA MOTIF domain–containing protein. We demonstrated that EGT2 is a key gene of root growth…
