Whole-genome sequencing

Whole-genome sequencing determines the complete DNA sequence of an organism’s genome, including coding and noncoding regions. It can reveal genetic variation across the genome rather than only at selected loci.

DNA sequencing: A set of methods for determining the order of nucleotides in DNA. Whole-genome sequencing applies DNA sequencing across an organism’s entire genome.
Genome: The complete set of genetic material in an organism, cell, or virus. Whole-genome sequencing aims to read this complete genetic set.
Clinical genome sequencing: The use of genome-wide DNA sequencing to support medical diagnosis, risk assessment, or treatment decisions. It applies whole-genome sequencing to questions about an individual’s health.
Whole-exome sequencing: The sequencing of the protein-coding regions of a genome, which make up a small fraction of its DNA. It surveys coding regions rather than the coding and noncoding genome.
Variant calling: The computational identification of DNA differences between a sample and a reference genome. Variant calls are a central output used to interpret whole-genome results.
Shotgun sequencing: A sequencing strategy that reads many randomly fragmented pieces of DNA and reconstructs their original order computationally. It is a foundational strategy for sequencing genomes without reading each chromosome continuously.
DNA: A molecule that stores hereditary information in sequences of nucleotide bases. Whole-genome sequencing measures the order of bases in DNA.
Rare disease: A disease affecting a small proportion of a population, often with a genetic cause. Genome sequencing can identify variants underlying rare, difficult-to-diagnose conditions.
Targeted sequencing: DNA sequencing focused on selected genes or genomic regions. It trades genome-wide coverage for depth and focus on chosen regions.
Genetic counseling: A process that helps people understand genetic information and its implications for health and family. Genome-wide findings may raise complex questions about inheritance and medical risk.

Linked from 17 pages