What are the next generation sequencing techniques?
7.2. Methods of Next-Generation Sequencing
- Massively Parallel Signature Sequencing.
- Polony Sequencing.
- 454 Pyrosequencing.
- Reversible Terminator Sequencing by Synthesis.
- Sequencing by Oligonucleotide Ligation Detection.
- Single-Molecule Real-Time Sequencing by Synthesis.
- Ion Torrent—Sequencing by Synthesis.
What is variant calling in DNA sequencing?
Variant calling is the process by which we identify variants from sequence data (Figure 11). Carry out whole genome or whole exome sequencing to create FASTQ files. Identify where the aligned reads differ from the reference genome and write to a VCF file.
What is SNP calling?
SNP calling aims to determine in which positions there are polymorphisms or in which positions at least one of the bases differs from a reference sequence; the latter is also sometimes referred to as ‘variant calling’.
What is meant by next generation sequencing?
Next generation sequencing (NGS) refers to large-scale DNA sequencing technology that allows for querying the entire genome (whole genome), the exons within all known genes (whole exome), or only exons of selected genes (target panel).
What is variant calling in WGS?
Whole Genome Sequencing Variant Calling. Variant calls are generated from WGS data using a different pipeline than WXS and Targeted Sequencing samples.
What is call rate in sequencing?
‘Call rate’ is the proportion or percentage of samples in which a confident genotype call could be made. 95% is a typical value.
What is genotype likelihood?
Genotype likelihoods are in this context the likelihood the data given a genotype. This is to be understood as we take all the information from our data for a specific position for a single individual, and we use this information to calculate the likelihood for our different genotypes.