Sentences with phrase «number variant where»

For structural variants, for example, a huge insertion or deletion of DNA sequence, or a copy number variant where you see four copies of a sequence in one dog and five in another, our accuracy is a bit lower, closer to 99 %.

Not exact matches

After analyzing both scans together for DNA variants associated with differences between when each patient's movement - associated symptoms first appeared and when they would have been expected based on the number of CAG repeats, MGH CHGR investigator and lead author Jong - Min Lee, PhD, identified two locations on chromosome 15 where variants were significantly associated with either early or late symptom onset.

Where unaffected parents were sequenced as well as the child, researchers saw a 10-fold reduction in the number of variants needing clinical evaluation.

The number of car models, where at least one variant has a combined city / highway label fuel economy of at least 30 mpg, has grown from 46 models in MY 2012 to more than 70 models in MY 2017, and the number of car models with 40 mpg or higher has more than doubled (comprised of hybrid, electric (EV), plug - in hybrid electric (PHEV), and fuel cell vehicles (FCV)-RRB-.

In tumor samples, where we frequently encounter variants with a very small allele frequency due to contamination with normal tissue, copy number variation, and tumor heterogeneity, high coverage is essential for accurate detection of these variants with high power.

Biases in coverage distribution, like the GC bias, are problematic, especially in analyses focusing on fragment abundance (e.g., copy number estimation, RNA - seq), but are also of importance for DNA sequencing, where variants in GC - rich and GC - poor regions might be missed due to low coverage.