Results 81 to 90 of about 59,976,998 (309)
FEBS Open Bio, EarlyView.The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti +5 more
wiley +1 more source
, 2017 List of contigs generated from the de novo assembly in CLC Genomics ...
John Sproul (3482006) +1 more
core +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Algorithm for DNA sequence assembly by quantum annealing
BMC Bioinformatics, 2022 Background The assembly task is an indispensable step in sequencing genomes of new organisms and studying structural genomic changes. In recent years, the dynamic development of next-generation sequencing (NGS) methods raises hopes for making whole ...
Katarzyna Nałęcz-Charkiewicz +1 more
doaj +1 more source
Scalable De Novo Genome Assembly Using Pregel [PDF]
2018 IEEE 34th International Conference on Data Engineering (ICDE), 2018 De novo genome assembly is the process of stitching short DNA sequences to generate longer DNA sequences, without using any reference sequence for alignment. It enables high-throughput genome sequencing and thus accelerates the discovery of new genomes.
Da Yan 0001 +4 more
openaire +2 more sources
, 2017 List of contigs generated from the de novo assembly in CLC Genomics ...
John Sproul (3482006) +1 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar +7 more
wiley +1 more source
NxRepair: error correction in de novo sequence assembly using Nextera mate pairs [PDF]
PeerJ, 2015 Scaffolding errors and incorrect repeat disambiguation during de novo assembly can result in large scale misassemblies in draft genomes. Nextera mate pair sequencing data provide additional information to resolve assembly ambiguities during scaffolding ...
Rebecca R. Murphy +3 more
doaj +2 more sources
Methods for De-novo Genome Assembly
, 2020 Despite advances in algorithms and computational platforms, de-novo genome assembly remains a challenging process. Due to the constant innovation in sequencing technologies (Sanger, SOLiD, Illumina, 454, PacBio and Oxford Nanopore), genome assembly has evolved to respond to the changes in input data type.
Arash Bayat +4 more
openaire +2 more sources