SV detection sensitivity analysis based on long-read SV calls from the Human Genome Structural Variation Consortium (HGSVC). See main Supplementary Information PDF for full legend. Supplementary Table 5 Number of variants represented in Fig 2d. See main Supplementary Information PDF for full legend....
As part of the Human Genome Structural Variation Consortium (HGSVC), we sought to comprehensively determine the complete spectrum of human genetic variation in three family trios. To overcome the barriers to SV detection from conventional algorithms, we integrate a suite of cutting-edge genomic techn...
7938 bp) at first. A high-confidence insertion and deletion callset for this sample made by Genome in a Bottle Consortium (GIAB) [45] was employed as the ground truth (since the
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the International Standards for Cytogenomic Arrays (ISCA) Consortium 也启动了一项whole-genome array database, which provides clinicians and researchers free access to a searchable catalogue ofranked disease-associated structural variants and affected genes, thus offering a fast and user-friendly interface...
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from...
All human RNA-seq samples were analyzed uniformly by human GTEx (v8) consortium previously [10], and the normalized gene expression (TPM) data were obtained inhttps://gtexportal.org/home/datasets. For cattle, we analyzed 11,642 publicly available RNA-seq runs from 8536 samples (by July 2019...
1000 Genomes Project Consortium et al. A map of human genome variation from population-scale sequencing. Nature 467, 1061–1073 (2010). Skaletsky, H. et al. The male-specific region of the human Y chromosome: a mosaic of discrete sequence classes. Nature 423, 825–837 (2003). Article CA...
The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 467, 1061–1073 (2010) Conrad, D. F. et al. Origins and functional impact of copy number variation in the human genome. Nature 464, 704–712 (2010) Article CAS Google Scholar Kid...
and LD of copy-number polymorphisms (CNPs) in duplication-rich regions of the genome, we profiled copy-number variation in 130 putative “rearrangement hotspot regions” among 269 individuals of European, Yoruba, Chinese, and Japanese ancestry analyzed by the International HapMap Consortium. Eighty...