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Exact(3)
Most human exons are constitutive.
Since the length of most human exons is <300 nucleotides (nt) [29], probesets with sequence of >500 nt were excluded.
This can help to: (i) maximize capture length to take advantage of increasingly longer NGS reads; (ii) cover most human exons using a single probe, making sequencing more economical; (iii) avoid common SNVs in the probes' annealing regions that can lead to amplification failures or overlooked sample variants; and (iv) reduce the relative GC content of hard-to-capture targets.
Similar(57)
In another exome capture comparison study, Parla et al. showed that both NimbleGen SeqCap EZ Exome Library SR and Agilent SureSelect All Exon were similar to each other in performance, and able to capture most of the human exons targeted by their probe sets.
Most human genes include multiple exons along their loci that can be used in the alternative transcripts expressed from each specific locus.
Most human pre-mRNAs contain multiple exons separated by much larger intron sequences and more than 90% may be alternatively spliced or 3′ end processed to produce multiple mRNA isoforms (Wang et al, 2008; Ozsolak et al, 2010).
Most human protein-encoding genes contain multiple exons that are spliced together, frequently in alternative arrangements, by the spliceosome.
Most human and mouse genes have many exons (Fig. 1, left) and are annotated with multiple splice forms.
As proposed by Zhang and Chasin, 40%% of new human exons are alternatively spliced, most of which are cassette exons with low inclusion rates, and the majority (90 %) of new cassette exons resemble genomic interspersed repetitive sequences [41].
But humanity at its most human, absolutely.
The deduced protein sequences, synteny and exon-intron boundaries are conserved between most human and X. tropicalis orthologues.
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