Researchers have finally sequenced the complete human genome, filling the gaps in the Human Genome Project’s (HGP) historic first draft.

“Having been part of the original Human Genome Project in 2001, and especially focused on the difficult regions, it’s really satisfying for me to see this done even though it took 20 years,” researcher Evan Eichler, a genome scientist from the University of Washington in Seattle, told New Scientist.

The human genome: A genome is like a genetic instruction manual — it contains all the information an organism needs to grow and function. The human genome is written in DNA, and while your exact genome is unique to you, about 99.9% of it is identical across all people.

I was at HudsonAlpha’s spinoff clinic for rare diseases, the Smith Family Clinic for Genomic Medicine. Most people don’t know this, but the second largest biomedical research campus in the USA and the fourth in the entire world is in Alabama. Long-read genome sequencing is essential for aging research because it is able to detect methylation and acetylation very conveniently, as well as major structural changes to the genome that are associated with both rare disease AND aging. This is an explanation of how long-read sequencing is able to fill in sequence gaps caused by Illumina short-read technology.

In 2020, Chromosome X and 8 were finished end-to-end with long-read sequencing, for the first time. And now in 2021, a complete gapless human genome is on the horizon. The Human Genome Project may finally, truly become complete.

February 3, 2021 (Huntsville, Ala.) – Researchers at the HudsonAlpha Institute for Biotechnology used a new, cutting-edge genomic sequencing technology to help physicians make diagnoses for two pediatric patients who had been on long diagnostic journeys.

Limitations of traditional sequencing in neurodevelopmental disease diagnosis

Neurodevelopmental diseases, many of which are genetic in nature, affect one to three percent of children and cause a range of physical and intellectual disabilities. Identifying the genetic variants, or changes in DNA, that lead to these diseases can provide a precise diagnosis, guide treatment approaches, and give families the answer to their years-long medical mystery.

Big fan of long-read sequencing. It helped diagnose my rare disease when conventional sequencing failed.

What’s the Difference between Short-Read Sequencing and Long-Read Sequencing? Like their names suggest, short-read sequencing looks at DNA in short snippets (100–350 base pairs) while long-read sequencing measures long fragments of DNA (tens of thousands of base pairs). Why does that matter? Well, when trying to characterize a human genome that has two copies (one maternal and one paternal), each 3.2 billion base pairs in length — having longer snippets of DNA means you: Need fewer snippets to make up the length of the whole genome and have no gaps where the sequence is unknown Can more easily map how one region of the genome is connected to another region Have the ability to phase or determine which copy of a gene, maternal or paternal, a mutation occurs in.

PacBio long-read sequencing provides the most comprehensive view of genomes, transcriptomes, and epigenomes.