生物
外套
白色(突变)
脱色
遗传学
定位
基因复制
基因
人工智能
计算机科学
古生物学
作者
Sotiria Milia,Alexander S. Leonard,Xena Marie Mapel,Sandra Milena Bernal Ulloa,Cord Drögemüller,Hubert Pausch
出处
期刊:Genome Research
[Cold Spring Harbor Laboratory Press]
日期:2024-12-18
卷期号:35 (4): 1041-1052
被引量:16
标识
DOI:10.1101/gr.279064.124
摘要
and facial depigmentation. The complex SV contains a variable number of tandemly duplicated 14.3 kb repeats, consisting of LTRs, LINEs, and other repetitive elements, leading to misleading alignments of short and long reads when using a linear reference. We align 250 short-read sequencing samples spanning 15 cattle breeds to the pangenome graph, further validating that the alleles of the SV segregate with head depigmentation. We estimate an increased count of repeats in Hereford relative to Simmental and other white-headed cattle breeds from the graph alignment coverage, suggesting a large under-assembly in the current Hereford-based cattle reference genome, which had fewer copies. Our work shows that exploiting assembly path similarities within graph pangenomes can reveal trait-associated complex SVs.
科研通智能强力驱动
Strongly Powered by AbleSci AI