Search results

SNV calling from NGS data is any of a range of methods for identifying the existence of single nucleotide variants (SNVs) from the results of next generation...

genotyping and DNA sequencing projects. VCF is a common output format for variant calling programs due to its relative simplicity and scalability. Many tools...

data (cancer vs metagenomic), and variant type of interest (SNVs or structural variants). The output of variant calling is typically in vcf format, and...

detection of clonal variants, it is a major limitation for applications that require higher accuracy for detection of low-frequency variants such as detection...

variant classes, it is less susceptible to common artefacts of single-cell methods based on whole genome amplification, which include variant calling...

simple and advanced tools are provided, supporting complex tasks like variant calling and alignment viewing as well as sorting, indexing, data extraction...

Applications include analysis of unique cDNAs to avoid PCR biases in iCLIP, variant calling in ctDNA, gene expression in single-cell RNA-seq (scRNA-seq) and haplotyping...

applications that are more tolerant to error rates, such as structural variant calling, third generation sequencing has been found to outperform existing...

Variant Creutzfeldt–Jakob disease (vCJD), commonly referred to as "mad cow disease" or "human mad cow disease" to distinguish it from its BSE counterpart...

having between mapped, aligned, and variants have been predicted from an alignment file (BAM), also known as variant calling. This process will produce a resultant...

single nucleotide variants, small insertions/deletions. and structural variation. Variant calling in RNA-Seq is similar to DNA variant calling and often employs...

tool designed for DNA sequencing data for raw data, alignment, and variant calling. qrqc Quickly scans reads and gathers statistics on base and quality...

1000 Genomes Project and variant RS numbers are indexed based on dbSNP build 151. Bcftools – utilities for variant calling and manipulating VCFs and...

Ninon; Dessimoz, Christophe; Sedlazeck, Fritz J. (2019). "Structural variant calling: the long and the short of it". Genome Biology. 20 (1): 246. doi:10...

unrevealing. Developing a pipeline for clinical diagnosis based on aligning, variant calling and filtering Pacific Biosciences SMRT sequencing data, the team identified...

Pointing and calling is a method in occupational safety for avoiding mistakes by pointing at important indicators and verbally calling out their status...

This article describes the calling conventions used when programming x86 architecture microprocessors. Calling conventions describe the interface of called...

prediction. Deep learning has been applied to regulatory genomics, variant calling and pathogenicity scores. Natural language processing and text mining...

"The Variant" is the second episode of the first season of the American television series Loki, based on Marvel Comics featuring the character Loki. It...

Omicron (B.1.1.529) is a variant of SARS-CoV-2 first reported to the World Health Organization (WHO) by the Network for Genomics Surveillance in South...