Exact(6)
Genetic studies of neurodevelopmental disorders have identified a growing list of risk variants, including both common single-nucleotide variants and rare copy-number variations, many of which are associated with genes having limited functional annotations.
It brings a lighter body, a 48-volt roll-control system that keeps the car even more planted when pushed hard around corners helping eliminate any roll-induced queasiness along the way and variants including both V8 and W12 engines in both coupe and convertible guise, as was the case in previous generations.
There is strong consensus on the number of New World founding haplogroup-defining variants, including both coding and non-coding hypervariable regions I and II (HVRI+II) variants [5], [12].
Indeed, the 1,000 genomes project already reported novel variants including both rare and common types from population-scale sequencing [ 13].
Our results clearly demonstrate that only sequencing the whole genome can identify all the causative variants including both common and rare variants.
Fourteen parents were available for typing for 12 of the 15 novel patient variants, including both parents for the two unrelated patients having the identical g.-1453C>G g.-1453C>Griant.
Similar(54)
Genomic variants include both changes in the nucleotides as well as changes in chromosome structure.
These variants included both rare mutations (e.g. E46K and A1442P) and SNPs, so we also screened them in a pedigree with two PD cases.
Fifth, due to the suboptimal power in the discovery dataset, it is likely that the selected 350 variants include both true and false signals.
We also performed a conditional independence test between the significant associated variants by comparing the model including both variants and a model including just one of the variant.
Applying the filtering strategy described under Materials and Methods, we were able to isolate between 1 and 23 variant positions per line, including both single nucleotide variants and small insertions/deletions (Table 1).
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