Genetics in medicine open to us all

B Yuan - Genetics in Medicine Open, 2023 - gimopen.org
We have witnessed the big bang of genomics and genomic medicine, driven by Moore's law–
beating breakthroughs in technology. It took the Human Genome Project 13 years and 3 …

[HTML][HTML] Obstacles and opportunities for the future of genomic medicine

BD Solomon - Molecular Genetics & Genomic Medicine, 2014 - ncbi.nlm.nih.gov
The pace of the advancement of genomic sequencing over the last decade–especially
within the last 5 years–has been astounding. What initially required billions of dollars and …

[HTML][HTML] What is the purpose of launching the World Journal of Medical Genetics?

H van Bokhoven - World Journal of Medical Genetics, 2011 - wjgnet.com
Congratulations to the publisher, members of the editorial board of the journal, all the
authors and readers for launching the World Journal of Medical Genetics (WJMG) as a new …

The big medical data miss: challenges in establishing an open medical resource

EJ Topol - Nature Reviews Genetics, 2015 - nature.com
The big medical data miss: challenges in establishing an open medical resource | Nature
Reviews Genetics Skip to main content Thank you for visiting nature.com. You are using a …

[HTML][HTML] Genetics in genomic era

E Poliakov, DN Cooper, EI Stepchenkova… - Genetics research …, 2015 - hindawi.com
Genetics is a relatively young science compared to many other fields in biology, for example,
evolutionary biology or physiology. However, genetics is a central theme in many fields …

[PDF][PDF] The convergence of research and clinical genomics

E Birney - The American Journal of Human Genetics, 2019 - cell.com
I am lucky enough to have both started my career in genomics just before the first reference
human genome was created (and been part of that creation) and been involved in the roll …

[HTML][HTML] Lessons learned from the search for genes responsible for rare Mendelian disorders

NL Sobreira, D Valle - Molecular genetics & genomic medicine, 2016 - ncbi.nlm.nih.gov
The last decade has witnessed dramatic improvements in DNA sequencing technology with
reduced cost, increased throughput, and improved analytic tools and resources. A …

[HTML][HTML] What does genomic medicine mean for diverse populations?

A Adeyemo, C Rotimi - Molecular genetics & genomic medicine, 2014 - ncbi.nlm.nih.gov
The completion of the effort to sequence the human genome opened up a new era in human
genomics. The new tools and technologies developed, as well as new models for …

Prioritising the application of genomic medicine

B Doble, DJ Schofield, T Roscioli, JS Mattick - NPJ Genomic Medicine, 2017 - nature.com
The clinical translation of genomic sequencing is hampered by the limited information
available to guide investment into those areas where genomics is well placed to deliver …

The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions

MJ Bamshad, JA Shendure, D Valle… - American journal of …, 2012 - Wiley Online Library
Next generation exome sequencing (ES) and whole genome sequencing (WGS) are new
powerful tools for discovering the gene (s) that underlie Mendelian disorders. To accelerate …