“It’s very fair to say the human genome was never fully sequenced,” Craig Venter, another genomics luminary, told STAT. “The human genome has not been completely sequenced and neither has any other mammalian genome as far as I’m aware,” said Harvard Medical School bioengineer George Ch...
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The first attempt to assemble a diploid human genome from a single individual relied on highly accurate and moderately long (500–1,000-bp) Sanger sequencing reads4. However, such assemblies were fragmented and unable to resolve many repetitive regions of the human genome4. Recent advances in lo...
We also investigated the coverage of genome, genes and exons by the assembled contigs against the coverage of reads used in thede novoassembly by aligning contigs to the reference genome. When we combined fully and partially covered genes or exons, we observed a similar pattern of increasing cov...
We are proud to offer the largest collection of fully sequenced and pre-cloned human open reading frames (ORFs) to-date, available in a pooled lentiviral whole genome format. Developed at the Broad Institute, the MISSION® TRC3 human whole genome pooled ORF library consists of over 17,000...
Due to its 5′-3′ directionality, a DNA sequence is entirely distinct from its mirror image. Sequins represent mirror images of naturally occurring DNA present in the NA12878 reference genome sample. Therefore, in a sequenced library of NA12878 genome sample spiked with sequins, we can unequivo...
all species have been sequenced with high-coverage PacBio HiFi (>50x) and Oxford Nanopore ultra-long 100 kb+ (>30x) sequencing reads. For haplotype phasing, Dovetail Hi-C data was generated for all genomes and Strand-seq data is also expected. Parental Illumina data was collected for bonobo...
Long-read sequencing technologies are promising to discover the SVs of sequenced sample comprehensively. However, it is still non-trivial to exert the advantages of long reads due to the high sequencing errors and the complexity of SVs. Herein, we propose cuteSV, a novel read alignment-based SVs...
With the ability to generate reads tens to thousands of kilobases in length with an accuracy approaching that of short-read sequencing technologies, these platforms have proven their ability to resolve some of the most challenging regions of the human genome, detect previously inaccessible structural ...
Fig. 1: General classification of repeats, the typical structure of TEs and TRs, and the proportion of various types of repetitive elements in the human genome. Sub-graph (a): Classification of repeats in the human genome. Sub-graph (b): Arrangement and characterization of repeats in the hu...