Nav: Home

Assembly of genetic sequences approaches 100 percent accuracy

March 23, 2017

Researchers have greatly improved upon a technique to assemble genetic sequences from scratch, reaching more than 99% accuracy in assembling the human genome in the correct order. They applied the technique to assemble the genomes of two species of mosquito that spread disease, providing important insights into the ancestry of these species. The advancement will accelerate the genomic analysis of many organisms. Most genomes sequenced today are determined through the generation of short sequenced bits of DNA that are computationally pieced together like a jigsaw puzzle. Hi-C is a sequencing-based approach to piecing these sequences together, ordering and orienting genetic sequences along scaffolding within a chromosome. Given how compact and tightly coiled genetic material is within chromosomes, however, mistakes in genome assembly can easily be made. Here, Olga Dudchenko and colleagues developed a technique to identify positions where a scaffold's long-range contact pattern changes abruptly, hinting that a scaffold has been incorrectly positioned. As well, they developed a novel algorithm to better anchor, order, and orient the sequences. The authors used this modified Hi-C technique to assemble a human genome, finding that 99% of genetic sequences matched a standard reference human genome, and that the orientation was correct for 93% of scaffolds. Next the team used the technique to assemble the genomes of two mosquito species, respectively, that spread disease, Aedes aegypti, a vector for Zika virus, and Culex quinquefasciatus, a vector for West Nile virus. The data shed light on the shared ancestry of these species, which could help scientists better understand ways to control these vectors in the future.
-end-


American Association for the Advancement of Science

Related Human Genome Articles:

Science and legal experts debate future uses and impact of human genome editing in Gender & the Genome
Precise, economical genome editing tools such as CRISPR have made it possible to make targeted changes in genes, which could be applied to human embryos to correct mutations, prevent disease, or alter traits.
Evolution purged many Neanderthal genes from human genome
Neanderthal genetic material is found in only small amounts in the genomes of modern humans because, after interbreeding, natural selection removed large numbers of weakly deleterious Neanderthal gene variants, according to a study by Ivan Juric and colleagues at the University of California, Davis, published Nov.
Mathematical analysis reveals architecture of the human genome
Mathematical analysis has led researchers in Japan to a formula that can describe the movement of DNA inside living human cells.
Navigating the human genome with Sequins
Australian genomics researchers have announced the development of Sequins -- synthetic 'mirror' DNA sequences that reflect the human genome.
Scientists cut 'Gordian knot' in the human genome
Females have two X chromosomes in each of their cells.
More Human Genome News and Human Genome Current Events

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Anthropomorphic
Do animals grieve? Do they have language or consciousness? For a long time, scientists resisted the urge to look for human qualities in animals. This hour, TED speakers explore how that is changing. Guests include biological anthropologist Barbara King, dolphin researcher Denise Herzing, primatologist Frans de Waal, and ecologist Carl Safina.
Now Playing: Science for the People

#534 Bacteria are Coming for Your OJ
What makes breakfast, breakfast? Well, according to every movie and TV show we've ever seen, a big glass of orange juice is basically required. But our morning grapefruit might be in danger. Why? Citrus greening, a bacteria carried by a bug, has infected 90% of the citrus groves in Florida. It's coming for your OJ. We'll talk with University of Maryland plant virologist Anne Simon about ways to stop the citrus killer, and with science writer and journalist Maryn McKenna about why throwing antibiotics at the problem is probably not the solution. Related links: A Review of the Citrus Greening...