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To reduce the size of the dataset as much as possible without losing too much information, an identity cutoff of 80% was used regardless of the taxonomic description in the sequence (taxlevel = 0, maxsim = 0.8).
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Descriptions were obtained from: (i) the original description, if the sequence has one in the EMBL; (ii) the user definition, provided by the sequence owner when downloading sequences; (iii) the description retrieved by Blast2GO (see below); and (iv) the PGI definition obtained by the best hit in a low stringency BLAST (E < 10-3).
Instead of a finite number of sequences, such calculations result in a probabilistic description of the sequence ensemble.
9 of 13 children from GI (69.2%) demonstrated abnormal results from Duration Pattern test in a verbal description of the sequence (naming).
In addition, since we have focused the analysis on the description of the mutations in the sequence of the pseudogenes respect to the parental genes, insertions in the parental gene were not considered.
A full description of the sequence extraction procedure is available in the online supplement.
Thirty sequences were applied in two modalities to each ear: a verbal description of the sequence (naming) and humming.
A description of the charts comes in the sequence.
Corrected clones are indicated, e.g., as 'clone 1c' in the sequence description line of the submitted sequences; recombinant sequences are indicated as such in the notes.
Whenever variant characterization data are available in the literature, it is reported in the description field in "Sequence annotation (Features)", "Natural variant" (Fig. 2), in free text form.
The description of the sequences in [4, 5] requires some work, so we do not go into the details.
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