Whole Genome Sequencing

Whole Genome Sequencing (WGS), also known as Whole Genome Sequencing, Whole Genome Sequencing or Whole Genome Sequencing, is the process of determining the DNA sequence of all or nearly all of an organism's genome at once. This requires sequencing all of the organism's chromosomal DNA, as well as the DNA in the mitochondria, and in the case of plants, the DNA in the chloroplast. 

WGS provides insight into human, animal, plant, and microbial genomic DNA sequences and enables data analysis at the individual or population level. Comprehensive analysis of SNP/INDEL/CNV/SV and other variants of the genome can be performed. Sequencing analysis enables the identification of somatic and germline mutations and tailored patterns in cancer and other diseases.

- Human Whole Genome Sequencing

Human Whole Genome Sequencing (hWGS) enables researchers to characterize the complete genetic makeup of individuals and characterize the entire human genome. It allows identification of genomic variation information, including single nucleotide polymorphisms (SNPs), insertions and deletions (InDels), structural variations (SVs), and copy number variations (CNVs), in a single and cost-effective analysis. 

Since its first publication in 2000, the human reference genome has only covered the euchromatin portion of the genome, leaving important heterochromatin regions unfinished. For the remaining 8% of the genome, the telomere-to-telomere (T2T) consortium provides the complete 3.055 billion base pair sequence T2T-CHM13 of the human genome, which includes gap-free assembly of all chromosomes except Y, correcting for previous , and nearly 200 million base pairs of sequences, containing 1956 gene predictions, 99 of which are predicted to encode proteins. 

The completed region includes all centromeric satellite arrays, the nearest segmental duplication, and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome for variant and functional studies.

- Personalized Medicine and WGS

WGS was primarily used as a research tool, but was introduced into the clinic in 2014. In the future of personalized medicine, whole-genome sequence data may be an important tool to guide therapeutic interventions. Gene sequencing tools at the SNP level can also be used to pinpoint functional variants from association studies and improve the knowledge available to researchers interested in evolutionary biology, thereby laying the groundwork for predicting disease susceptibility and drug response. 

WGS should not be confused with DNA analysis, which only determines the likelihood that genetic material came from a particular individual or group and does not contain additional information about genetic relationship, origin, or susceptibility to a particular disease. Furthermore, whole-genome sequencing should not be confused with methods that sequence specific subsets of the genome - such methods include whole-exome sequencing (1-2% of the genome) or SNP genotyping (<0.1% of the genome ).

- The Future of Next Generation DNA Sequencing

Next Generation Sequencing has been around for over a decade, but has revolutionized biological sciences. We are now entering a golden age of sequencing technology and the deep understanding of genetics that it brings; now that we have the tools to really advance that understanding, we can use this knowledge to improve human health. The need for better, cheaper sequencing has driven huge advances in technology. Decreasing cost and speed of sequencing has driven its expansion.

Genome sequencing is definitely not fortune-telling: it can't predict how long you'll live or what your body mass index will look like. However, it can tell you a lot about your susceptibility to drugs, your family history, or whether you are a carrier of a single gene disorder. 

After the Human Genome Project was completed 20 years ago (and cost a whopping $2.7 billion), the dream was to be able to sequence a human genome for $1,000. After this became feasible, the next dream was to make it even cheaper: it now costs about $200 after Illumina's innovation came to fruition. 

What is your next dream? Ability to analyze data and draw clinical conclusions from it. Wait, I can already sequence my genome for $100, can't I?

Although this is usually not trivial from the name of the various service offerings, there is a difference between whole-genome sequencing and sub-$100 offers based on "genome-wide association studies (GWAS)." 

You can imagine the difference: your DNA is a thick book. Whole Genome Sequencing is reading this book from cover to cover. Still, we don't necessarily understand everything, but we can read all letters and sentences. 

Meanwhile, the GWAS service looks at the book here and there, reading a few sentences at a time, looking for a letter at another point, and then using research to find statistically relevant correlations between your results and those recorded in science. Suppose, ideally, they give you an executive summary of the full story. 

From a short-term consumer perspective, the real significance of the massive drop in the price of whole-genome sequencing is that it drives down the price of all other services. You can't sell GWAS results for $200 if someone can sequence their whole genome for the same price.

[More to come ...]