Mariella Bodemeier Loayza Careaga, PhD | Dec 4, 2023 | 6 min read
Haydeh Payami helped uncover the genetic basis of Parkinson’s disease. Now, she hopes to find new ways to treat the disease by studying the gut microbiome.
This year’s crop of winning products features many with a clinical focus and others that represent significant advances in sequencing, single-cell analysis, and more.
Studies The Scientist covered this year illustrate the expanding importance of genetic and genomic research in all aspects of life science, from ecology to medicine.
Brianna Chrisman and Jordan Eizenga | Sep 1, 2022 | 10+ min read
Thirty years out from the start of the Human Genome Project, researchers have finally finished sequencing the full 3 billion bases of a person’s genetic code. But even a complete reference genome has its shortcomings.
By combining whole-exome sequencing data with longitudinal electronic health record information for 50,000 individuals, researchers have identified novel disease associations.
A trial called BabySeq, in which researchers performed genomic sequencing on 159 newborns, identified children susceptible to diseases that regular screening doesn’t look for.
Gamze Gursoy and Mark Gerstein of Yale Medical School have developed a strategy for stripping identifying variants from functional genomic data, balancing privacy with utility.
Certain populations have been historically underrepresented in genome sequencing studies, but the NIH, private clinics, and 23andMe and other companies are trying to fix that.