68 / 2026-04-05 09:52:08
Construction and Application of a Structure Variant Imputation Reference Panel for Sheep
Structural variants (SVs);,Variant Imputation Reference Panel;,Sheep
Abstract Pending
Jilong Ren / 西北农林科技大学
Yu Jiang / 西北农林科技大学
Lu Meixuan / 西北农林科技大学
Linyao Gao / 西北农林科技大学
Xiaoke Hu / 西北农林科技大学
Structural variants(SVs; >50 bp) have greater regulatory potential than SNVs and short indels, yet most studies focus on smaller variants. Here, we constructed an SV database using HiFisequencing data from 304 sheepsrepresenting 53 breeds distributed across Asia, the Middle East, and Africa. A reference panel (52.4M SNPs, 5.4M indels, 177,420 SVs) was constructed from 5056 high-coverage WGS samples(>120 breeds), and enables accurate SV imputation in low-coverage WGS data (r² > 0.9, concordance > 0.95). Applying this panel to 457 sheeps with paired multi tissue transcriptomes(2,134 samples), we identified 182 SVs as putative causal eQTLs (PIP > 0.8). Expression altering SVs exhibitsignificantly larger effectsizesthan SNVs/indels.


As an example, a 58 kb deletion disrupts multiple exons of CHRNA10 and drivesitsstrong downregulation in the pituitary, illustrating the direct regulatory impact of SVs.
Important Date
  • Conference Date

    Apr 16

    2026

    to

    Apr 19

    2026

  • Apr 06 2026

    Draft paper submission deadline

Sponsored By
西北农林科技大学
西安交通大学
浙江大学
华中农业大学
中国遗传学会三维基因组学专委会
Organized By
西北农林科技大学
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