Structural variation: the hidden genomic treasure
...a Link PEMer, structural variant discovery in 454 sequencing data by paired-end mapping Link TIGER, transduction inference in germline genomes using short read data...2716 days ago
2183 days ago
ClinCNV: Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data
ClinCNV detects CNVs in germline and somatic context in NGS data (targeted and whole-genome). We work in cohorts, so it makes sense to try ClinCNV if you have more than 10...1584 days ago
List of Bioinformatics Software Tools for Next Generation Sequencing
...jects. Variant Identification Germline Callers IMPUTE2 Descrip...2 BAM files(tumor & normal), annotated as germline or somatic; also has single s...ols sort) Output: VCF and report file Germline + Somatic Callers VarScan...2922 days ago
Bioinformatics tools to detect horizontal gene transfer (HGT) in genomes
...in a gene by HGT, foreign DNA must enter the host nucleus, integrate into the genome, and in more complex organisms it must enter the sequestered germline in order to be transmitted to...864 days ago
Webinar on 'An integrated RNA and DNA approach to unravel genetic regulation in cancer'
...tion of DNA variant analysis and RNA-Seq analysis enables one to investigate the consequences of genomic changes in the RNA transcripts including germline and somatic changes, imprinti...3385 days ago
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Tags: Manta, rapid, detection, structural, variants, indels, germline, cancer, sequencing, applications
2183 days ago
ClinCNV: Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data
ClinCNV detects CNVs in germline and somatic context in NGS data (targeted and whole-genome). We work in cohorts, so it makes sense to try ClinCNV if you have more than 10 samples (recommended amount - 40 since we estimate variances from the data). By "cohort" we mean samples sequenced ...Tags: ClinCNV, Detection, copy, number, changes, Germline, Trio, Somatic, NGS, data
1584 days ago
Comment on "Genome in a Bottle (GIAB) Consortium"
...and redistribution of commercial products: increasing the diversity of germline reference samples and develop...eGIAB data collected through 2016GA4GH Best practices for benchmarking germline small variantsPosters and Pre...1574 days ago