Results 81 to 90 of about 566,210 (290)
SVIM: Structural Variant Identification using Mapped Long Reads
, 2019 Motivation: Structural variants are defined as genomic variants larger than 50bp. They have been shown to affect more bases in any given genome than SNPs or small indels. Additionally, they have great impact on human phenotype and diversity and have been
Heller, D., Vingron, M.
core +1 more source
Indel variant analysis of short-read sequencing data with Scalpel [PDF]
Nature Protocols, 2016 As the second most common type of variation in the human genome, insertions and deletions (indels) have been linked to many diseases, but the discovery of indels of more than a few bases in size from short-read sequencing data remains challenging. Scalpel (http://scalpel.sourceforge.net) is an open-source software for reliable indel detection based on ...
Han Fang +18 more
openaire +2 more sources
FEBS Letters, EarlyView.Cryptochrome and PAS/LOV proteins play intricate roles in circadian clocks where they act as both sensors and mediators of protein–protein interactions. Their ubiquitous presence in signaling networks has positioned them as targets for small‐molecule therapeutics. This review provides a structural introduction to these protein families.
Eric D. Brinckman +2 more
wiley +1 more source
MOST: a modified MLST typing tool based on short read sequencing [PDF]
PeerJ, 2016 Multilocus sequence typing (MLST) is an effective method to describe bacterial populations. Conventionally, MLST involves Polymerase Chain Reaction (PCR) amplification of housekeeping genes followed by Sanger DNA sequencing.
Rediat Tewolde +9 more
doaj +2 more sources
Improving sequence-based genotype calls with linkage disequilibrium and pedigree information
, 2012 Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases.
Whittemore, Alice S., Zhou, Baiyu
core +1 more source
Identification of avian W-linked contigs by short-read sequencing [PDF]
BMC Genomics, 2012 The female-specific W chromosomes and male-specific Y chromosomes have proven difficult to assemble with whole-genome shotgun methods, creating a demand for new approaches to identify sequence contigs specific to these sex chromosomes. Here, we develop and apply a novel method for identifying sequences that are W-specific.Using the Illumina Genome ...
Chen, Nancy +3 more
openaire +5 more sources
FEBS Letters, EarlyView.This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva +5 more
wiley +1 more source
A comparison of short-read, HiFi long-read, and hybrid strategies for genome-resolved metagenomics
Microbiology SpectrumShotgun metagenomics enables the reconstruction of complex microbial communities at a high level of detail. Such an approach can be conducted using both short-read and long-read sequencing data, as well as a combination of both.
Raphael Eisenhofer +6 more
doaj +1 more source
Scientific Reports, 2023 Inherited retinal degenerations (IRDs) are a heterogeneous group of predominantly monogenic disorders with over 300 causative genes identified. Short-read exome sequencing is commonly used to genotypically diagnose patients with clinical features of IRDs,
Kenji Nakamichi +3 more
doaj +1 more source
Indels, structural variation, and recombination drive genomic diversity inPlasmodium falciparum [PDF]
, 2016 The malaria parasite Plasmodium falciparum has a great capacity for evolutionary adaptation to evade host immunity and develop drug resistance. Current understanding of parasite evolution is impeded by the fact that a large fraction of the genome is ...
Campino, Susana +21 more
core +3 more sources