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Repetitive DNA sequence detection and its role in the human genome
Repetitive DNA sequences playing critical roles in driving evolution, inducing variation, and
regulating gene expression. In this review, we summarized the definition, arrangement, and …
regulating gene expression. In this review, we summarized the definition, arrangement, and …
Variant calling and benchmarking in an era of complete human genome sequences
Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
The complete sequence of a human Y chromosome
The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …
because of its complex repeat structure that includes long palindromes, tandem repeats and …
A draft human pangenome reference
Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
Automated assembly scaffolding using RagTag elevates a new tomato system for high-throughput genome editing
Advancing crop genomics requires efficient genetic systems enabled by high-quality
personalized genome assemblies. Here, we introduce RagTag, a toolset for automating …
personalized genome assemblies. Here, we introduce RagTag, a toolset for automating …
The complete sequence of a human genome
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …
The complete sequence and comparative analysis of ape sex chromosomes
Apes possess two sex chromosomes—the male-specific Y chromosome and the X
chromosome, which is present in both males and females. The Y chromosome is crucial for …
chromosome, which is present in both males and females. The Y chromosome is crucial for …
Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study
Background An understanding of the genetic mechanisms underlying diseases in
ancestrally diverse populations is an important step towards development of targeted …
ancestrally diverse populations is an important step towards development of targeted …
Two telomere-to-telomere gapless genomes reveal insights into Capsicum evolution and capsaicinoid biosynthesis
Chili pepper (Capsicum) is known for its unique fruit pungency due to the presence of
capsaicinoids. The evolutionary history of capsaicinoid biosynthesis and the mechanism of …
capsaicinoids. The evolutionary history of capsaicinoid biosynthesis and the mechanism of …
The complete and fully-phased diploid genome of a male Han Chinese
Since the release of the complete human genome, the priority of human genomic study has
now been shifting towards closing gaps in ethnic diversity. Here, we present a fully phased …
now been shifting towards closing gaps in ethnic diversity. Here, we present a fully phased …