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This is evidenced by the relatively lower intensity of the 350 kD large variant in OA cartilage and synovial fluids.
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Full details of CAVA are provided in Additional file 2. To evaluate performance in annotating large variant datasets we used CAVA to annotate the ExAC data.
Small and large variants presentations were played in a pseudo-randomised fashion, so that each pairing of small and large variants occurred only once and the subjects never heard the same growl exemplars as a small and a large variant).
Unfortunately, the iterative nature of the evolution experiments that we used to create our P450 variants created a large variance in the number of mutations per variant.
For 44_PLY01 the largest gene cluster occurred for phosphoribosylaminoimidazole-succinocarboxamide synthase, a gene associated with purine metabolism [ 41], and the largest variant cluster in CCMP1788 coded for a type II rhodopsin gene.
Other protein-coding transcripts produce XLαs, the extra-large variant of Gsα (Gnasxl in mice), and NESP55, a neuroendocrine secretory protein (mouse Nesp).
The ability to assay large DNA molecules has allowed accurate reconstruction of chromosomal pieces during de novo genome assembly and identification of relatively large structural variants in genetic diversity studies.
These results demonstrate the capacity of whole genome sequencing for the detection of large structural variants in single individuals.
Of 1,557 base pairs (bp) (largest variant), 56.3% were variable in at least one sample.
There is a large VPS13B transcript variant in human that is not detected in mouse.
In those NA12878 replicates with multiple FPs relative to the ASD panel callset, the majority are artifacts created by two larger structural variants in the introns of SHANK3 detected manually during the review of discordant calls.
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