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  1. .... length ±1bp). Without SNVs, STRkit achieves a lower seq. MI rate of 93.64% (95.58% seq. len., 98.42% ±1 bp). LongTR and TRGT again perform almost as well as STRkit with HiFi data; LongTR achieves a seq. MI rate of 94.52% (94.85% seq. len., 97.54% ±1 bp), and TRGT achieves a seq. MI rate of 94.77% (97...
  2. ...), to identify the eye region. PAX6-positive and PAX6-negative domains were independently photo-illuminated using a 20× objective lens (Supplemental Fig. 3A). Following lysis, cDNA libraries were amplified and sequenced. At an average sequencing depth of 7.3 million read pairs per sample, we detected an average...
  3. ...discrete regions containing the zebrafish and human HCNE (i5zHCNE and i5hHCNE, respectively). We also tested the upstream accessible region (Enh –3 kb). Each reporter construct also contained the crystallin, alpha a (cryaa) promoter upstream of gfp. This drives GFP expression in the lens of the eye, thus...
  4. ...of anchor i in the first round was calculated as f(i) = max{f(j) + len(i) × log10(q(i) + 0.001) − gap(i, j)/100}, i > j > 1, where len(i) and q(i) are, respectively, the length and the mapping quality of anchor i. Gap (i,j) is the distance between anchors i and j, which was computed as abs (ix − jy), and x...
  5. ...BLASTN (v2.12.0) (Chen et al. 2015) with the consensus sequence (len = 32 bp): “gatatttccatgtttatacagatagcggtgta.” BLAST hits with >90% of the consensus (>28 bp) were recovered. The individual pCht unit was classified into different types based on the variants (small INS, DEL, or substitution). The SD...
  6. ...splice-site variations involving complex combinations. The ENACT algorithm systematically addresses these splicing complexities through exon architecture representation for genes after processing exonic loci in isoforms and their variations (see Methods) (Box 1).Box 1. ENACT AlgorithmFunctions:len...
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