Structural variant calling: the long and the short of it

M Mahmoud, N Gobet, DI Cruz-Dávalos, N Mounier… - Genome biology, 2019 - Springer
Recent research into structural variants (SVs) has established their importance to medicine
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 …

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 …

Variation graph toolkit improves read mapping by representing genetic variation in the reference

E Garrison, J Sirén, AM Novak, G Hickey… - Nature …, 2018 - nature.com
Reference genomes guide our interpretation of DNA sequence data. However, conventional
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

M Goel, H Sun, WB Jiao, K Schneeberger - Genome biology, 2019 - Springer
Genomic differences range from single nucleotide differences to complex structural
variations. Current methods typically annotate sequence differences ranging from SNPs to …

The Chara genome: secondary complexity and implications for plant terrestrialization

T Nishiyama, H Sakayama, J De Vries, H Buschmann… - Cell, 2018 - cell.com
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 …

The Harvest suite for rapid core-genome alignment and visualization of thousands of intraspecific microbial genomes

TJ Treangen, BD Ondov, S Koren, AM Phillippy - Genome biology, 2014 - Springer
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 …

GenASM: A high-performance, low-power approximate string matching acceleration framework for genome sequence analysis

DS Cali, GS Kalsi, Z Bingöl, C Firtina… - 2020 53rd Annual …, 2020 - ieeexplore.ieee.org
Genome sequence analysis has enabled significant advancements in medical and scientific
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 …

The Symbiodinium kawagutii genome illuminates dinoflagellate gene expression and coral symbiosis

S Lin, S Cheng, B Song, X Zhong, X Lin, W Li, L Li… - Science, 2015 - science.org
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 …