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In addition to EFNB1, the duplication interval included two other entirely duplicated genes, PJA1 encoding the RING-finger protein Praja1 and STARD8, which encodes a cell junction protein.
The revised map position places APBA2 outside of the most narrow interstitial duplication interval and the area most supported by linkage data but within the larger idic(15) duplications.
While public and private sequence assemblies now depict the correct location for this gene, previous published reports indicated that this gene mapped proximal to BP3 within the PWS/AS deletion and autism-associated interstitial duplication interval [ 21, 22].
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There are 1,020 duplication intervals from duplicated sequence identified by WGAC and WSSD with a median length and average length of 48.8 kb and 82.8 kb, respectively.
Besides, 50% (159/320) of the silkworm segmental duplication intervals identified by WGAC and WSSD contain gene duplicates (Additional file 4).
We found that 44% of the WSSD duplication intervals (33.4/75.8 Mb) were not detected by the genome assembly based comparison and, likely represent collapsed duplications (Fig. 1).
Seventy-six percent (778/1020) of the bovine segmental duplication intervals identified by both WGAC and WSSD correspond to complete or partial gene duplications (See Additional File 1: Table S3).
Following our previous studies of other genomes, we defined segmental duplications based on the union of all WGAC hits with less than 94% sequence identity and WSSD duplication intervals (Fig. 1).
Following previous studies [ 7], we defined segmental duplications based on the union of significant WGAC hits with less than 94% sequence identity and WSSD results (Fig. 1): i.e. WGAC duplication intervals that were greater than ≥ 94% sequence identity and ≥ 10 kb in size but not supported by WSSD, were excluded from the genome-wide calculation of segmental duplications.
Another crucial point is that although UMD2 is different from Btau_4.0 and significantly improved in large, high-identity duplicated regions identified only by WGAC, our definition of bovine segmental duplication (union of all WGAC hits with less than 94% sequence identity and WSSD duplication intervals) is essentially assembly independent.
We added an option to ARLEM to restrict the duplications to originate either from the leftmost or from the rightmost unit of a map interval with duplication events.
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