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Trios-based inquiry into de novo copy number variants in the swine genome Cover

Trios-based inquiry into de novo copy number variants in the swine genome

Open Access
|Feb 2026

Figures & Tables

Figure 1.

The whole genome sequencing experimental design. A black arrow indicates the paternal contribution, while a red/blue arrow indicates the maternal. S corresponds to sire, D to dam, and O to offspring. Family 1 is represented by red, while Family 2 is represented by blue
The whole genome sequencing experimental design. A black arrow indicates the paternal contribution, while a red/blue arrow indicates the maternal. S corresponds to sire, D to dam, and O to offspring. Family 1 is represented by red, while Family 2 is represented by blue

Figure 2.

The similarity between animals in overlapping deletions. S corresponds to sire, D to dam, and O to offspring. Family 1 is represented by red, while Family 2 is represented by blue
The similarity between animals in overlapping deletions. S corresponds to sire, D to dam, and O to offspring. Family 1 is represented by red, while Family 2 is represented by blue

Figure 3.

The similarity between animals in overlapping duplications. S corresponds to sire, D to dam, and O to offspring. Family 1 is represented by red, while Family 2 is represented by blue
The similarity between animals in overlapping duplications. S corresponds to sire, D to dam, and O to offspring. Family 1 is represented by red, while Family 2 is represented by blue

Figure 4.

Copy number variant (CNV) overlap within families. The left black column shows the number of CNV regions (CNVRs) detected in all animals. The green/navy blue/blue/navy red columns give the number of CNVRs found in five/four/three/two animals, and the dots below the columns denote the animals with these variants. The red columns correspond to CNVs unique to each individual. The first three red columns always correspond to the number of de novo CNVRs present in offspring. The horizontal columns are the total CNVRs identified in each animal. The first two graphs (a and b) show deletion regions, and the latter (c and d) refer to duplication regions
Copy number variant (CNV) overlap within families. The left black column shows the number of CNV regions (CNVRs) detected in all animals. The green/navy blue/blue/navy red columns give the number of CNVRs found in five/four/three/two animals, and the dots below the columns denote the animals with these variants. The red columns correspond to CNVs unique to each individual. The first three red columns always correspond to the number of de novo CNVRs present in offspring. The horizontal columns are the total CNVRs identified in each animal. The first two graphs (a and b) show deletion regions, and the latter (c and d) refer to duplication regions

Figure 5.

The frequency of de novo copy number variants (CNVs) to all CNVs
The frequency of de novo copy number variants (CNVs) to all CNVs

Figure 6.

Genomic distribution of de novo deletions identified in the six offspring
Genomic distribution of de novo deletions identified in the six offspring

Figure 7.

Genomic distribution of de novo duplications identified in the six offspring
Genomic distribution of de novo duplications identified in the six offspring

Additional file 2.

Number of deletions identified in each animal.
Number of deletions identified in each animal.

Additional file 3.

Number of duplications identified in each animal.
Number of duplications identified in each animal.

Additional file 8.

Gene-level overlap between the de novo copy number variants (CNVs). (a) Visualisation of the ENSSSCG00000017645 (TEX14; chr12:34815476–34912766). Two CNVs (my_data_2) were identified within the gene boundaries: chr12:34888201-34899600 (duplication), chr12:34899601-34900400 (deletion). (b) Visualisation of the ENSSSCG00000004032 gene location (PRKN; chr1:5465312–6730872). Three CNVs (my_data_1) were identified within the gene boundaries: chr1:5514201-5516400 (duplication_1), chr1:5908601-5911400 (deletion), chr1:6264201-6273000 (duplication_2).
Gene-level overlap between the de novo copy number variants (CNVs). (a) Visualisation of the ENSSSCG00000017645 (TEX14; chr12:34815476–34912766). Two CNVs (my_data_2) were identified within the gene boundaries: chr12:34888201-34899600 (duplication), chr12:34899601-34900400 (deletion). (b) Visualisation of the ENSSSCG00000004032 gene location (PRKN; chr1:5465312–6730872). Three CNVs (my_data_1) were identified within the gene boundaries: chr1:5514201-5516400 (duplication_1), chr1:5908601-5911400 (deletion), chr1:6264201-6273000 (duplication_2).

Additional file 9.

Gene ontologies (GOs) with fold enrichment and the number of genes corresponding to the GO term. The false discovery rate (FDR) reflects the statistical significance of the enrichment (adjusted p-values for multiple testing to control the proportion of type I errors). Fold Enrichment measures the enrichment magnitude. Higher values indicate stronger enrichment and are an important metric of effect size. N. of Genes is the number of genes in the ontology that overlap with a gene list provided by a user.
Gene ontologies (GOs) with fold enrichment and the number of genes corresponding to the GO term. The false discovery rate (FDR) reflects the statistical significance of the enrichment (adjusted p-values for multiple testing to control the proportion of type I errors). Fold Enrichment measures the enrichment magnitude. Higher values indicate stronger enrichment and are an important metric of effect size. N. of Genes is the number of genes in the ontology that overlap with a gene list provided by a user.

j_aoas-2025-0120_tab_002

chrchr lengthcnv countscnv lengthcoverage (%)max sizemean lengthmin size
deletions
12743305325608240000.300410003951.07600
215193599466711414000.751700007324.74600
31328489132384040000.304572004168.07600
41309109153446384000.48811460010021.51600
51045260073644782000.457342004053.30600
617084358738710766000.6301196008284.24600
71218440994666682000.548996006597.85600
81389662373556672000.48564006371.27600
913951208347813436000.9631834008183.26600
10693594531572718000.392650003526.11600
11791699783404496000.568592005214.12600
12616027492335472000.88819500011570.82600
1320833459048111592000.5561402009968.40600
141417554464237186000.5071002006244.44600
151404127253776094000.434530005449.87600
16799442802623294000.412534003223.66600
17634940812484176000.6581896006933.06600
1855982971491318000.235448005779.59600

j_aoas-2025-0120_tab_003

chrchr lengthcnv countscnv lengthcoverage (%)max sizemean lengthmin size
de novo deletions
1274330532552220000.081360004036.36600
2151935994341860000.122700005470.58600
313284891333746000.056134002260.60600
413091091523634000.048118002756.52600
510452600722794000.075246003609.09600
617084358730972000.056176003240.00600
712184409924608000.049110002533.33600
813896623716710000.051364004437.50600
9139512083311796000.128410005793.54600
106935945311184000.02638001672.72600
117916997813372000.04692002861.53600
126160274912168000.02742001400.00600
13208334590331178000.056282003569.69600
1414175544627616000.043124002281.48600
1514041272518788000.056290004377.77600
167994428018386000.048102002144.44600
176349408114616000.097280004400.00600
18559829718232000.041130002900.00600

j_aoas-2025-0120_tab_004

O1_S1D1O2_S1D1O3_S1D2O4_S2D3O5_S2D3O6_S2D4
P -value3.76⋅10−51.26⋅10−66.49⋅10−70.13⋅10−10.17⋅10−38.18⋅10−7

j_aoas-2025-0120_tab_005

min1st qu.medianmean3rd qumaxsdnumber
de novo deletions
600800140028352850230003890.36880
60080014003472.53450360005684.46680
60080026003935.7144050364005695.17956
60080012004515.5563800290007038.01245
60080016002972.5493000280004424.66251
60080018003710.9092800700007991.858110
inherited deletions
6001800420011637.64960019460023621.46457
6001600380011657.99955019500025709.8438
6001800420010456.46960018780018723.54379
6002000440010830.46920019500022087.34394
6002200460012348.791135019460024186.72414
6001600350010816.85860019500024060.52534
de novo duplications
18005200760013147.83171004420012181.0923
32007000820011711.1113900392007987.16927
540071501050010866.6714000176004865.6626
54008200880088009850116002097.6186
260049007800820010600164004170.22414
14003500640011500127507000015423.7720
inherited duplications
2200120002360041910.225040056320057319.37225
2200120002320042234.064960056320060354.32229
1200137002600046173.265450056320063677.16187
2200138002700046524.855540056320063077.09165
1200138502620047055.175330056320065834.85174
2200116002300039696.854495056320056621.46254

j_aoas-2025-0120_tab_001

Additional files
Sample nameSample ID% of mapped reads% of properly mapped readsAverage genome coverage after alignment
Family 1
Sire 1S198.4295.3613
Dam 1D198.539611
Dam 2D298.1195.3715
Offspring 1O1_S1D198.4195.5816
Offspring 2O2_S1D198.3695.3615
Offspring 3O3_S1D298.395.3114
Family 2
Sire 2S298.4895.4710
Dam 3D398.695.8212
Dam 4D498.5795.819
Offspring 4O4_S2D398.4295.5412
Offspring 5O5_S2D398.5595.5312
Offspring 6O6_S2D498.3795.4218
DOI: https://doi.org/10.2478/aoas-2025-0120 | Journal eISSN: 2300-8733 | Journal ISSN: 1642-3402
Language: English
Submitted on: Feb 18, 2025
|
Accepted on: Oct 14, 2025
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Published on: Feb 16, 2026
In partnership with: Paradigm Publishing Services
Publication frequency: Volume open

© 2026 Magdalena Frąszczak, Błażej Nowak, Martyna Kaźmierczak, Magda Mielczarek, published by National Research Institute of Animal Production
This work is licensed under the Creative Commons Attribution 3.0 License.

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