Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA.

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Tác giả: Guillaume Bourque, Warren A Cheung, Bing Ge, Cristian Groza, Tomi Pastinen

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : Genome research , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 727342

Structural variants (SVs) are omnipresent in human DNA, yet their genotype and methylation statuses are rarely characterized due to previous limitations in genome assembly and detection of modified nucleotides. Also, the extent to which SVs act as methylation quantitative trait loci (SV-mQTLs) is largely unknown. Here, we generated a pangenome graph summarizing SVs in 782 de novo assemblies obtained from Genomic Answers for Kids, capturing 14.6 million CpG dinucleotides that are absent from the CHM13v2 reference (SV-CpGs), thus expanding their number by 43.6%. Using 435 methylomes, we genotyped 4.06 million SV-CpGs, of which 3.93 million (96.8%) are methylated at least once. Nonrepeat sequences contribute 1.59 × 10
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