Long non-coding RNAs: definitions, functions, challenges and recommendations

JS Mattick, PP Amaral, P Carninci… - … reviews Molecular cell …, 2023 - nature.com
Genes specifying long non-coding RNAs (lncRNAs) occupy a large fraction of the genomes
of complex organisms. The term 'lncRNAs' encompasses RNA polymerase I (Pol I), Pol II …

The status of the human gene catalogue

P Amaral, S Carbonell-Sala, FM De La Vega, T Faial… - Nature, 2023 - nature.com
Scientists have been trying to identify every gene in the human genome since the initial draft
was published in 2001. In the years since, much progress has been made in identifying …

Towards a complete map of the human long non-coding RNA transcriptome

B Uszczynska-Ratajczak, J Lagarde… - Nature Reviews …, 2018 - nature.com
Gene maps, or annotations, enable us to navigate the functional landscape of our genome.
They are a resource upon which virtually all studies depend, from single-gene to genome …

Overcoming challenges and dogmas to understand the functions of pseudogenes

SW Cheetham, GJ Faulkner, ME Dinger - Nature Reviews Genetics, 2020 - nature.com
Pseudogenes are defined as regions of the genome that contain defective copies of genes.
They exist across almost all forms of life, and in mammalian genomes are annotated in …

[图书][B] RNA, the epicenter of genetic information

J Mattick, P Amaral - 2023 - library.oapen.org
The origin story and emergence of molecular biology is muddled. The early triumphs in
bacterial genetics and the complexity of animal and plant genomes complicate an intricate …

Realizing the significance of noncoding functionality in clinical genomics

BS Gloss, ME Dinger - Experimental & molecular medicine, 2018 - nature.com
Clinical genomics promises unprecedented precision in understanding the genetic basis of
disease. Understanding the impact of variation across the genome is required to realize this …

An RNA-based theory of natural universal computation

H Akhlaghpour - Journal of Theoretical Biology, 2022 - Elsevier
Life is confronted with computation problems in a variety of domains including animal
behavior, single-cell behavior, and embryonic development. Yet we currently do not know of …

Isoform age-splice isoform profiling using long-read technologies

R De Paoli-Iseppi, J Gleeson, MB Clark - Frontiers in Molecular …, 2021 - frontiersin.org
Alternative splicing (AS) of RNA is a key mechanism that results in the expression of multiple
transcript isoforms from single genes and leads to an increase in the complexity of both the …

How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

SB Wortmann, MM Oud, M Alders… - Journal of Inherited …, 2022 - Wiley Online Library
Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …

A Kuhnian revolution in molecular biology: Most genes in complex organisms express regulatory RNAs

JS Mattick - Bioessays, 2023 - Wiley Online Library
Thomas Kuhn described the progress of science as comprising occasional paradigm shifts
separated by interludes of 'normal science'. The paradigm that has held sway since the …