Sequencing of human genomes with nanopore technology
Sign Up to like & getrecommendations! Published in 2019 at "Nature Communications"
DOI: 10.1038/s41467-019-09637-5
Abstract: Whole-genome sequencing (WGS) is becoming widely used in clinical medicine in diagnostic contexts and to inform treatment choice. Here we evaluate the potential of the Oxford Nanopore Technologies (ONT) MinION long-read sequencer for routine WGS… read more here.
Keywords: sequencing human; snv calling; human genomes; genomes nanopore ... See more keywords
Leveraging European infrastructures to access 1 million human genomes by 2022
Sign Up to like & getrecommendations! Published in 2019 at "Nature Reviews Genetics"
DOI: 10.1038/s41576-019-0156-9
Abstract: Human genomics is undergoing a step change from being a predominantly research-driven activity to one driven through health care as many countries in Europe now have nascent precision medicine programmes. To maximize the value of… read more here.
Keywords: genomic data; human genomes; leveraging european; genomes 2022 ... See more keywords
Efficient hybrid de novo assembly of human genomes with WENGAN
Sign Up to like & getrecommendations! Published in 2020 at "Nature Biotechnology"
DOI: 10.1038/s41587-020-00747-w
Abstract: Generating accurate genome assemblies of large, repeat-rich human genomes has proved difficult using only long, error-prone reads, and most human genomes assembled from long reads add accurate short reads to polish the consensus sequence. Here… read more here.
Keywords: novo assembly; contig ng50; efficient hybrid; assembly ... See more keywords
Chromosome-scale, haplotype-resolved assembly of human genomes
Sign Up to like & getrecommendations! Published in 2020 at "Nature Biotechnology"
DOI: 10.1038/s41587-020-0711-0
Abstract: Haplotype-resolved or phased genome assembly provides a complete picture of genomes and their complex genetic variations. However, current algorithms for phased assembly either do not generate chromosome-scale phasing or require pedigree information, which limits their… read more here.
Keywords: chromosome scale; human genomes; haplotype resolved;
Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes.
Sign Up to like & getrecommendations! Published in 2017 at "Genome research"
DOI: 10.1101/gr.211748.116
Abstract: We are rapidly approaching the point where we have sequenced millions of human genomes. There is a pressing need for new data structures to store raw sequencing data and efficient algorithms for population scale analysis.… read more here.
Keywords: bwt; sequencing reads; reference; human genomes ... See more keywords
Evolutionary and Medical Consequences of Archaic Introgression into Modern Human Genomes
Sign Up to like & getrecommendations! Published in 2018 at "Genes"
DOI: 10.3390/genes9070358
Abstract: The demographic history of anatomically modern humans (AMH) involves multiple migration events, population extinctions and genetic adaptations. As genome-wide data from complete genome sequencing becomes increasingly abundant and available even from extinct hominins, new insights… read more here.
Keywords: evolutionary medical; archaic introgression; consequences archaic; human genomes ... See more keywords