专题：Genomic variations and chromosomal abnormalities

This cluster of papers focuses on genomic rearrangements and copy number variations in the human genome, exploring their role in various conditions such as neurodevelopmental disorders and cancer. The research covers topics such as structural variation, chromosomal aberrations, segmental duplications, and high-resolution mapping techniques.
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The complete sequence of a human genome

article Full Text OpenAlex 3117 FWCI184.6945

YaHS: yet another Hi-C scaffolding tool

article Full Text OpenAlex 2471 FWCI121.6803

A draft human pangenome reference

article Full Text OpenAlex 1120 FWCI83.7983

Haplotype-resolved assembly of diploid genomes without parental data

article Full Text OpenAlex 1052 FWCI47.2089

NanoPack2: population-scale evaluation of long-read sequencing data

article Full Text OpenAlex 852 FWCI63.3688

Polypolish: Short-read polishing of long-read bacterial genome assemblies

article Full Text OpenAlex 706 FWCI38.1851

Genomic characterization of metastatic patterns from prospective clinical sequencing of 25,000 patients

article Full Text OpenAlex 624 FWCI44.0775

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

article Full Text OpenAlex 622 FWCI59.5719

Complete genomic and epigenetic maps of human centromeres

article Full Text OpenAlex 613 FWCI62.0632

Detection of mosaic and population-level structural variants with Sniffles2

article Full Text OpenAlex 524 FWCI113.0377