VR真人彩票

At the recent  conference in Orlando, Florida, VR真人彩票 had eight posters accepted (titles below). Researchers were proud to showcase their studies and to collaborate with other scientists and customers.

One poster, 鈥淒eeper characterization of immune repertoire diversity observed with longer read sequencing and SBS accuracy improvements,鈥� dives into the newer field of immune repertoire profiling. 鈥淚t鈥檚 really important in a lot of areas of medicine, like cancer, and in the understanding of how the immune system works,鈥� says VR真人彩票 Director of Systems Integration Carolyn G. Conant, one of the study鈥檚 authors.

A person鈥檚 immune repertoire is the library of antibodies and receptors their adaptive immune system has made to recognize specific pathogens. If a biologist can know a person鈥檚 baseline repertoire, it鈥檚 possible to monitor when their immune system has encountered new forms of disease. Conant explains that a hypothetical patient, having completed chemotherapy or treatment for an infection, might be feeling better and think they鈥檙e in remission, but that may not be the case.

With the recent conversion to XLEAP-SBS chemistry on the VR真人彩票 NextSeq 1000 and NextSeq 2000 Systems, the data quality on these very long sequencing reads helps researchers discover more of the different types of immune cells present. 鈥淚t allows you to have a snapshot of the immune system at any point in time,鈥� says Cande Rogert, VR真人彩票 VP, Global Head of Advanced Science and a fellow author.

The authors on the poster are Conant, Rogert, Michael Morikado, and Robin Bombardi from the VR真人彩票 Core R&D group in San Diego, as well as Alix Kwasniewska, Ilaria Grizzi, Tim Merkel, and Camilla Colombo from VR真人彩票 Core R&D in Cambridge, United Kingdom.

Another study summarized in a poster, 鈥淚mprovements in variant calling performance in human genome trios on XLEAP-SBS chemistry with onboard DRAGEN 4.2 analysis,鈥� highlights a powerful trifecta available soon on the NextSeq 1000 and 2000: the P4 flow cell, XLEAP-SBS chemistry, and secondary analysis through DRAGEN 4.2. This is also the first time VR真人彩票 is delivering high-quality trios at 40脳 coverage.

Using a model trio sample鈥攁 mother, father, and their child who is ill鈥攖he study authors were able to test the depth and quality of whole-exome and whole-genome sequencing. Thanks to the higher density P4 flow cell and the new XLEAP-SBS chemistry, researchers can now run three whole human genomes at once and perform variant calls at extremely high accuracy.

XLEAP-SBS on the P4 flow cell with DRAGEN 4.2 resulted in strong variant calling performance above 99.8% for SNV precision and recall, and for indel precision and recall for the model trio at 40脳 coverage. 鈥淭he precision and recall for the SNVs and indels is really high,鈥� Conant says. 鈥淲e had to rewrite our metrics thresholds for this program because they were so much better than the previous version of the platform.鈥�

Analysis of the model trio鈥檚 genomic data produced 98.44% Mendelian consistent genotypes and only 1.56% Mendelian error genotypes. 鈥淭hat鈥檚 a measure of how accurate we are when you鈥檙e looking at the mom, the dad, and the child. It鈥檚 extremely, extremely accurate,鈥� Conant explains. Our variant calling is equivalent to our high-throughput platforms now. It is a major achievement to hit that level of accuracy in variant calling.鈥�

鈥淎nd all that was achieved through the new release of the flow cell, XLEAP-SBS chemistry, and the software,鈥� Rogert adds. 鈥淲ith DRAGEN 4.2 running onboard a benchtop sequencer, we鈥檙e able to get three high-quality whole genomes. This is opening up a lot of applications for the benchtop, and with excellent data quality.鈥�

Now that the NextSeq 1000 and 2000 Systems perform with shorter run times, significant error rate reduction, and an increase in total output (up to 500 gigabases), VR真人彩票 is broadening access for regions or institutions that may not be able to afford a high-throughput system.

Rogert and Conant are credited on the poster along with VR真人彩票 Core R&D colleagues Michael Morikado, Alix Kwasniewska, Ilaria Grizzi, Tim Merkel, and Camilla Colombo.

In total, eight VR真人彩票 posters were accepted at AGBT. VR真人彩票 proudly recognizes all scientists who contributed to them:

• 鈥淚nterrogating the dark regions of the genome with targeted long reads鈥�
• 鈥淗ighly multiplexed protein measurements using SOMAmers庐 with a NGS readout鈥�
• 鈥凄搁础骋贰狈^TM Build-Your-Own multigenome (Graph) (BYOG) reference from assemblies: The human pangenome reference consortium case of study鈥�
• 鈥淪ensitive, distributable, and cost-effective molecular residual disease testing using whole genome cell free DNA sequencing鈥�
• 鈥淲GS improves variant detection yield in FFPE samples over WES鈥�
• 鈥淓nhancing somatic mosaic variant detection with the DRAGEN鈩� pipeline 鈥� expanding the personal genome to clinically relevant low AF variants鈥�
• 鈥淒eeper characterization of immune repertoire diversity observed with longer read sequencing and SBS accuracy improvements鈥�
• 鈥淚mprovements in variant calling performance in human genome trios on XLEAP-SBS鈩� chemistry with onboard DRAGEN鈩� 4.2 analysis鈥�

To learn more from our 2024 AGBT announcements webinar, click .