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In recent years long read technologies have moved from being a niche and specialist field to a point of relative maturity likely to feature frequently in the genomic landscape. Analogous to next generation sequencing (NGS), the cost of sequencing using long read technologies has materially dropped whilst the instrument throughput continues to increase. Together these changes present the prospect of sequencing large numbers of individuals with the aim of fully characterising genomes at high resolution. In this article, we will endeavour to present an introduction to long read technologies showing: what long reads are; how they are distinct from short reads; why long reads are useful; and how they are being used. We will highlight the recent developments in this field, and the applications and potential of these technologies in medical research, and clinical diagnostics and therapeutics.
This article was published in the following journal.
Name: Human molecular genetics
The latest sequencing technologies such as the Pacific Biosciences (PacBio) and Oxford Nanopore machines can generate long reads at the length of thousands of nucleic bases which is much longer than t...
Increasingly, older adults desire to remain in their communities for as long as possible, referred to as "aging in place". While much of the aging in place literature focuses on housing specifically, ...
Due to sequencing bias, sequencing error and repeat problems, the genome assemblies usually contain misarrangements and gaps. When tackling these problems, current assemblers commonly consider the rea...
Yeonsan Ogye (YO), an indigenous Korean chicken breed (Gallus gallus domesticus), has entirely black external features and internal organs. In this study, the draft genome of YO was assembled using a ...
Recursive splicing (RS) is an evolutionarily conserved process of removing long introns via multiple steps of splicing. It was first discovered in Drosophila and recently proven to occur also in human...
Since 1998, UCONN undergraduate students have volunteered as part of a service- learning course to deliver a program called Husky Reads. Inspired by the nationally accepted American Academ...
The purpose of this study is to determine if there is any significant difference between using a short-term ON-Q nerve block (which is applied prior to surgery and maintained in place unti...
This proposed five-year study will focus on whether the addition of providing XR-NTX treatment at a patients' place of residence will increase adherence and thus efficacy of the medication...
The purpose of this study is to determine the efficacy of long-term addition of SmofKabiven® E to normal oral nutrition after routine dietary counseling. It takes place in lung cancer pat...
The purpose of this study is to look at the levels of three HIV medications: atazanavir, darunavir and cobicistat in the blood after drug intake has been stopped, in order to understand ho...
Devices to be inserted into veins or arteries for the purpose of carrying fluids into or from a peripheral or central vascular location. They may include component parts such as catheters, ports, reservoirs, and valves. They may be left in place temporarily for therapeutic or diagnostic purposes.
Difficulty in walking from place to place.
Cyclopentanophenanthrenes with a 5- or 6-membered lactone ring attached at the 17-position and SUGARS attached at the 3-position. Plants they come from have long been used in congestive heart failure. They increase the force of cardiac contraction without significantly affecting other parameters, but are very toxic at larger doses. Their mechanism of action usually involves inhibition of the NA(+)-K(+)-EXCHANGING ATPASE and they are often used in cell biological studies for that purpose.
One of the long-acting ANTIPSYCHOTIC AGENTS used for maintenance or long-term therapy of SCHIZOPHRENIA and other PSYCHOTIC DISORDERS.
The act, process, or result of passing from one place or position to another. It differs from LOCOMOTION in that locomotion is restricted to the passing of the whole body from one place to another, while movement encompasses both locomotion but also a change of the position of the whole body or any of its parts. Movement may be used with reference to humans, vertebrate and invertebrate animals, and microorganisms. Differentiate also from MOTOR ACTIVITY, movement associated with behavior.
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...