[HTML][HTML] Long-read sequencing emerging in medical genetics

T Mantere, S Kersten, A Hoischen - Frontiers in genetics, 2019 - frontiersin.org
The wide implementation of next-generation sequencing (NGS) technologies has
revolutionized the field of medical genetics. However, the short read lengths of currently …

Single-molecule sequencing: towards clinical applications

A Ameur, WP Kloosterman, MS Hestand - Trends in biotechnology, 2019 - cell.com
In the past several years, single-molecule sequencing platforms, such as those by Pacific
Biosciences and Oxford Nanopore Technologies, have become available to researchers …

Cellular calcium in bipolar disorder: systematic review and meta-analysis

PJ Harrison, N Hall, A Mould, N Al-Juffali… - Molecular …, 2021 - nature.com
Calcium signalling has long been implicated in bipolar disorder, especially by reports of
altered intracellular calcium ion concentrations ([Ca2+]). However, the evidence has not …

Native molecule sequencing by nano-ID reveals synthesis and stability of RNA isoforms

KC Maier, S Gressel, P Cramer, B Schwalb - Genome research, 2020 - genome.cshlp.org
Eukaryotic genes often generate a variety of RNA isoforms that can lead to functionally
distinct protein variants. The synthesis and stability of RNA isoforms is poorly characterized …

Voltage-gated calcium channel blockers for psychiatric disorders: genomic reappraisal

PJ Harrison, EM Tunbridge, AC Dolphin… - The British Journal of …, 2020 - cambridge.org
We reappraise the psychiatric potential of calcium channel blockers (CCBs). First, voltage-
gated calcium channels are risk genes for several disorders. Second, use of CCBs is …

Nanopore sequencing in blood diseases: a wide range of opportunities

CF Minervini, C Cumbo, P Orsini, L Anelli… - Frontiers in …, 2020 - frontiersin.org
The molecular pathogenesis of hematological diseases is often driven by genetic and
epigenetic alterations. Next-generation sequencing has considerably increased our …

Genetics of self-reported risk-taking behaviour, trans-ethnic consistency and relevance to brain gene expression

RJ Strawbridge, J Ward, LM Lyall, EM Tunbridge… - Translational …, 2018 - nature.com
Risk-taking behaviour is an important component of several psychiatric disorders, including
attention-deficit hyperactivity disorder, schizophrenia and bipolar disorder. Previously, two …

Nanopore long-read RNA-seq and absolute quantification delineate transcription dynamics in early embryo development of an insect pest

A Bayega, S Oikonomopoulos, ME Gregoriou… - Scientific reports, 2021 - nature.com
The olive fruit fly, Bactrocera oleae, is the most important pest for the olive fruit but lacks
adequate transcriptomic characterization that could aid in molecular control approaches. We …

Onset and recurrence of psychiatric disorders associated with anti-hypertensive drug classes

L Colbourne, S Luciano, PJ Harrison - Translational Psychiatry, 2021 - nature.com
The major anti-hypertensive (AHT) drug classes have been associated with differential risks
of psychiatric disorders. However, existing data are limited largely to depression, and …

New era in plant alternative splicing analysis enabled by advances in high-throughput sequencing (HTS) technologies

R Bedre, S Irigoyen, E Petrillo… - Frontiers in Plant Science, 2019 - frontiersin.org
Alternative splicing (AS) is a crucial posttranscriptional mechanism of gene expression
which promotes transcriptome and proteome diversity. At the molecular level, splicing and …