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 …

[HTML][HTML] The effects of vegetarian and vegan diets on gut microbiota

A Tomova, I Bukovsky, E Rembert, W Yonas… - Frontiers in …, 2019 - frontiersin.org
The difference in gut microbiota composition between individuals following vegan or
vegetarian diets and those following omnivorous diets is well documented. A plant-based …

The NCI-MATCH trial: lessons for precision oncology

PJ O'Dwyer, RJ Gray, KT Flaherty, AP Chen, S Li… - Nature medicine, 2023 - nature.com
Abstract The NCI-MATCH (Molecular Analysis for Therapy Choice) trial (NCT02465060) was
launched in 2015 as a genomically driven, signal-seeking precision medicine platform trial …

DNA sequencing at 40: past, present and future

J Shendure, S Balasubramanian, GM Church… - Nature, 2017 - nature.com
This review commemorates the 40th anniversary of DNA sequencing, a period in which we
have already witnessed multiple technological revolutions and a growth in scale from a few …

[HTML][HTML] Nanopore sequencing and assembly of a human genome with ultra-long reads

M Jain, S Koren, KH Miga, J Quick, AC Rand… - Nature …, 2018 - nature.com
We report the sequencing and assembly of a reference genome for the human GM12878
Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore …

[HTML][HTML] Long walk to genomics: History and current approaches to genome sequencing and assembly

AM Giani, GR Gallo, L Gianfranceschi… - Computational and …, 2020 - Elsevier
Genomes represent the starting point of genetic studies. Since the discovery of DNA
structure, scientists have devoted great efforts to determine their sequence in an exact way …

Privacy challenges and research opportunities for genomic data sharing

L Bonomi, Y Huang, L Ohno-Machado - Nature genetics, 2020 - nature.com
The sharing of genomic data holds great promise in advancing precision medicine and
providing personalized treatments and other types of interventions. However, these …

[HTML][HTML] The sequence of sequencers: The history of sequencing DNA

JM Heather, B Chain - Genomics, 2016 - Elsevier
Determining the order of nucleic acid residues in biological samples is an integral
component of a wide variety of research applications. Over the last fifty years large numbers …

High-throughput sequencing technologies

JA Reuter, DV Spacek, MP Snyder - Molecular cell, 2015 - cell.com
The human genome sequence has profoundly altered our understanding of biology, human
diversity, and disease. The path from the first draft sequence to our nascent era of personal …

Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations

FT Merkle, S Ghosh, N Kamitaki, J Mitchell, Y Avior… - Nature, 2017 - nature.com
Human pluripotent stem cells (hPS cells) can self-renew indefinitely, making them an
attractive source for regenerative therapies. This expansion potential has been linked with …