Question 1

What is the Meaning of Whole-Genome Sequencing?

Accepted Answer

Whole-Genome Sequencing (WGS) is an advanced laboratory process that meticulously determines the complete, ordered DNA sequence of an individual's entire genome, providing an exhaustive, base-by-base catalog of all genetic information. This comprehensive analysis captures all genetic variations, including single nucleotide polymorphisms (SNPs), structural changes, and copy number variations, offering profound insights into the complex genetic architecture underlying endocrine disorders and individual variability in hormone response.

Question 2

What is the Origin of Whole-Genome Sequencing?

Accepted Answer

The technique is a direct and rapid evolution of the landmark Human Genome Project, with its clinical and widespread research application becoming feasible due to exponential advancements in next-generation sequencing technologies. The term itself is purely descriptive, referring to the complete sequencing of the entire genetic complement, or 'whole genome.'

Question 3

What is the Mechanism of Whole-Genome Sequencing?

Accepted Answer

The process involves first fragmenting the genomic DNA into millions of small pieces, then simultaneously sequencing these short fragments in parallel, and finally using sophisticated computational algorithms to align the resulting sequence reads back to a known reference human genome. This high-resolution map of the genetic code allows clinicians and researchers to precisely identify specific genetic variants that may predispose an individual to hormonal imbalances or accurately predict their metabolism and efficacy response to various endocrine therapies.

Whole-Genome Sequencing

Meaning

Origin

Mechanism

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