Germline variant calling plays a crucial role in unlocking the mysteries encoded within our DNA and helps us understand the unique genetic variations passed down from generation to generation.

Beyond the exploration of heritage, germline variant calling plays a pivotal role in understanding the causes of hereditary diseases. By identifying genetic markers associated with conditions like cystic fibrosis or certain cancers, we gain valuable tools for predicting and preventing health challenges that may affect not only ourselves but also our descendants.

The utility of germline variants relies on accurate sequencing quality, which the UG 100 delivers on.

• Advanced machine learning algorithms that are part of the ecosystem that comes with the UG100
• Accurate SNP (F1 > 99.5%) and Indel (F1 > 99%) variant calls
• High accuracy copy number variant calls
• At only $100/genome, gain more insights from larger and better powered studies
• Applications include Clinical genomics, population studies, shallow WGS

Sequencing of 7 Genome in a Bottle (GIAB) samples shows high accuracy for SNP and INDEL variant calling.The Ultima Genomics High Confidence Region (UG-HCR) includes 99% of the GIAB HCR.

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Using samples from the NIGMS human genetic cell repository and clinical samples, data from the UG 100 has 97% precision and 99% recall compared to the 1K genome project.

Read our germline WGS app note

Table: Counts and length of CNVs identified in the cohort

Figure: CNV length distribution among UG 100 and 1kGP cohorts

Explore IDT's xGen™ for Ultima Genomics® product line including adapters, primers, and blocking oligos to expand the scale of your experiments.

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Explore our GitHub repository containing our WDL-format pipelines for calling short and copy-number variants and instructions for running on AWS HealthOmics Ready2Run.

Check out our AWS Ready2Run solution