Structural variant calling: the long and the short of it
Recent research into structural variants (SVs) has established their importance to medicine
and molecular biology, elucidating their role in various diseases, regulation of gene …
and molecular biology, elucidating their role in various diseases, regulation of gene …
Ten years of pan-genome analyses
G Vernikos, D Medini, DR Riley, H Tettelin - Current opinion in …, 2015 - Elsevier
Highlights•Next generation sequencing technologies have enabled large-scale genome
analyses.•Pan-genome analyses provide a framework for predicting and modeling genomic …
analyses.•Pan-genome analyses provide a framework for predicting and modeling genomic …
MUMmer4: A fast and versatile genome alignment system
G Marçais, AL Delcher, AM Phillippy… - PLoS computational …, 2018 - journals.plos.org
The MUMmer system and the genome sequence aligner nucmer included within it are
among the most widely used alignment packages in genomics. Since the last major release …
among the most widely used alignment packages in genomics. Since the last major release …
Variation graph toolkit improves read mapping by representing genetic variation in the reference
Reference genomes guide our interpretation of DNA sequence data. However, conventional
linear references represent only one version of each locus, ignoring variation in the …
linear references represent only one version of each locus, ignoring variation in the …
SyRI: finding genomic rearrangements and local sequence differences from whole-genome assemblies
Genomic differences range from single nucleotide differences to complex structural
variations. Current methods typically annotate sequence differences ranging from SNPs to …
variations. Current methods typically annotate sequence differences ranging from SNPs to …
The Chara genome: secondary complexity and implications for plant terrestrialization
Land plants evolved from charophytic algae, among which Charophyceae possess the most
complex body plans. We present the genome of Chara braunii; comparison of the genome to …
complex body plans. We present the genome of Chara braunii; comparison of the genome to …
The Harvest suite for rapid core-genome alignment and visualization of thousands of intraspecific microbial genomes
Whole-genome sequences are now available for many microbial species and clades,
however existing whole-genome alignment methods are limited in their ability to perform …
however existing whole-genome alignment methods are limited in their ability to perform …
GenASM: A high-performance, low-power approximate string matching acceleration framework for genome sequence analysis
Genome sequence analysis has enabled significant advancements in medical and scientific
areas such as personalized medicine, outbreak tracing, and the understanding of evolution …
areas such as personalized medicine, outbreak tracing, and the understanding of evolution …
STAR: ultrafast universal RNA-seq aligner
A Dobin, CA Davis, F Schlesinger, J Drenkow… - …, 2013 - academic.oup.com
Motivation: Accurate alignment of high-throughput RNA-seq data is a challenging and yet
unsolved problem because of the non-contiguous transcript structure, relatively short read …
unsolved problem because of the non-contiguous transcript structure, relatively short read …
The Symbiodinium kawagutii genome illuminates dinoflagellate gene expression and coral symbiosis
Dinoflagellates are important components of marine ecosystems and essential coral
symbionts, yet little is known about their genomes. We report here on the analysis of a high …
symbionts, yet little is known about their genomes. We report here on the analysis of a high …