Dense and accurate whole-chromosome haplotyping of individual genomes
Sign Up to like & getrecommendations! Published in 2017 at "Nature Communications"
DOI: 10.1038/s41467-017-01389-4
Abstract: The diploid nature of the human genome is neglected in many analyses done today, where a genome is perceived as a set of unphased variants with respect to a reference genome. This lack of haplotype-level… read more here.
Keywords: linked read; dense accurate; strand seq; genome ... See more keywords
Linked-read sequencing of gametes allows efficient genome-wide analysis of meiotic recombination
Sign Up to like & getrecommendations! Published in 2019 at "Nature Communications"
DOI: 10.1038/s41467-019-12209-2
Abstract: Meiotic crossovers (COs) ensure proper chromosome segregation and redistribute the genetic variation that is transmitted to the next generation. Large populations and the demand for genome-wide, fine-scale resolution challenge existing methods for CO identification. Taking… read more here.
Keywords: genome wide; analysis; sequencing gametes; recombination ... See more keywords
Linked-Read Sequencing of Eight Falcons Reveals a Unique Genomic Architecture in Flux
Sign Up to like & getrecommendations! Published in 2022 at "Genome Biology and Evolution"
DOI: 10.1093/gbe/evac090
Abstract: Falcons are diverse birds of cultural and economic importance. They have undergone major lineage-specific chromosomal rearrangements, resulting in greatly-reduced chromosome counts relative to other birds. Here, we use 10X Genomics linked reads to provide new… read more here.
Keywords: falcon genomes; linked read; chromosomal rearrangements; genomic architecture ... See more keywords
Identifying haplotypes in recessive inherited retinal dystrophies using whole‐genome linked‐read sequencing
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13847
Abstract: Conventional next‐generation sequencing methods, used in most gene panels, cannot separate maternally and paternally derived sequence information of distant variants. In recessive diseases, two or more equally plausible causative variants with unsolved phase information prevent… read more here.
Keywords: whole genome; genome linked; retinal dystrophies; read sequencing ... See more keywords