The quest to slow ageing through drug discovery

L Partridge, M Fuentealba, BK Kennedy - Nature Reviews Drug …, 2020 - nature.com
Although death is inevitable, individuals have long sought to alter the course of the ageing
process. Indeed, ageing has proved to be modifiable; by intervening in biological systems …

[HTML][HTML] The structure, function and evolution of a complete human chromosome 8

GA Logsdon, MR Vollger, PH Hsieh, Y Mao… - Nature, 2021 - nature.com
The complete assembly of each human chromosome is essential for understanding human
biology and evolution,. Here we use complementary long-read sequencing technologies to …

Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification

M Dapas, A Dunaif - Endocrine reviews, 2022 - academic.oup.com
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …

[HTML][HTML] Telomere-to-telomere assembly of a complete human X chromosome

KH Miga, S Koren, A Rhie, MR Vollger, A Gershman… - Nature, 2020 - nature.com
After two decades of improvements, the current human reference genome (GRCh38) is the
most accurate and complete vertebrate genome ever produced. However, no single …

Strategic vision for improving human health at The Forefront of Genomics

ED Green, C Gunter, LG Biesecker, V Di Francesco… - Nature, 2020 - nature.com
Starting with the launch of the Human Genome Project three decades ago, and continuing
after its completion in 2003, genomics has progressively come to have a central and …

A brief history of human disease genetics

M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

A reference map of the human binary protein interactome

K Luck, DK Kim, L Lambourne, K Spirohn, BE Begg… - Nature, 2020 - nature.com
Global insights into cellular organization and genome function require comprehensive
understanding of the interactome networks that mediate genotype–phenotype relationships …

Transposable elements in mammalian chromatin organization

HA Lawson, Y Liang, T Wang - Nature Reviews Genetics, 2023 - nature.com
Transposable elements (TEs) are mobile DNA elements that comprise almost 50% of
mammalian genomic sequence. TEs are capable of making additional copies of themselves …

[HTML][HTML] The potential for microRNA therapeutics and clinical research

J Hanna, GS Hossain, J Kocerha - Frontiers in genetics, 2019 - frontiersin.org
As FDA-approved small RNA drugs start to enter clinical medicine, ongoing studies for the
microRNA (miRNA) class of small RNAs expand its preclinical and clinical research …

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

AM Wenger, P Peluso, WJ Rowell, PC Chang… - Nature …, 2019 - nature.com
The DNA sequencing technologies in use today produce either highly accurate short reads
or less-accurate long reads. We report the optimization of circular consensus sequencing …