The complete sequence of a human genome
The completed regions include all centromeric satellite arrays, recent segmental duplications, and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and functional studies.778 days ago
Merfin: improved variant filtering, assembly evaluation and polishing via k-mer validation
...increased the precision of genotyped calls in several benchmarks, improved consensus accuracy and reduced frameshift errors when applied to human and nonhuman assemblies built from Pacific...775 days ago
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363 days ago
UniAligner: a parameter-free framework for fast sequence alignment
...rman algorithm, that work well for most sequences, fail to construct biologically adequate alignments of extra-long tandem repeats (ETRs), such as human centromeres and immunoglobuli...70 days ago