Daniel MacArthur
Human genomics, rare disease, and open data. Co-director of Medical and Population Genetics at @broadinstitute.
Last synced from Twitter 19m ago
Huge trove of British biodata is unlocking secrets of depression, sexual orientation, and more
The UK Biobank has spurred hundreds of research papers by giving all scientists equal access to its data. But people of European ancestry will benefit most
A statement to the IU Bloomington campus community by Provost Robel
A statement to the IU Bloomington campus community by Provost & Executive Vice President Lauren Robel
Gene expression cartography
A new computational framework, novoSpaRc, leverages single-cell data to reconstruct spatial context for cells and spatial expression across tissues and organisms, on the basis of an organization principle for gene expression.
Close now to where it must be
In 1968, blood samples collected from Galiwin'ku in Arnhem Land were sent to ANU for research. They are now being returned to their island home.
Long read sequencing of 1,817 Icelanders provides insight into the role of structural variants in human disease
Long-read sequencing (LRS) promises to improve characterization of structural variants (SVs), a major source of genetic diversity. We generated LRS data on 1,817 Icelanders using Oxford Nanopore Technologies, and identified a median of 23,111...
Comparative genetic architectures of schizophrenia in East Asian and European populations
Genome-wide meta-analysis with individuals of East Asian or European ancestry identifies 176 loci associated with schizophrenia. Despite consistent genetic effects across populations, polygenic risk models trained in one population have reduced...
The mutational profile and clonal landscape of the inflammatory bowel disease affected colon
Inflammatory bowel disease (IBD) is a chronic inflammatory disease associated with increased risk of gastrointestinal cancers but our understanding of the effects of IBD on the mutational profile and clonal structure of the colon is limited. Here,...
AI-augmented multidisciplinary teams: hype or hope?
Over the past few years, the approach to treating diseases has switched from the solo
expertise of a single specialist to treatment orchestrated by a multidisciplinary
team, with the intention of merging the opinions of various experts in an...
PA-18-906: Research Supplements to Promote Diversity in Health-Related Research (Admin Supp - Clinical Trial Not Allowed)
NIH Funding Opportunities and Notices in the NIH Guide for Grants and Contracts: Research Supplements to Promote Diversity in Health-Related Research (Admin Supp - Clinical Trial Not Allowed) PA-18-906. NIH
Research Supplements to Promote Re-entry into Biomedical and Behavioral Research Careers
NIGMS participates in an NIH-wide program that provides administrative supplements to research grants to support individuals with high potential to re-enter an active research career after taking time off.
Can’t Pay the Medical Bill? Your Hospital Might Sue
With deductibles and co-pays skyrocketing, insured patients owe a larger share of their medical bills. More and more are being taken to court.
More troubles at Annamalai University
This blog post expresses my personal opinion. It is not an accusation of misconduct. In my last post, I wrote about a large set of around 200 problematic papers, all from research groups at Annamal…
Peer Review: New initiatives to enhance the value of eLife’s process
Michael Eisen, eLife’s Editor-in-Chief, reflects on lessons learned from a recent peer-review trial, and describes how eLife aims to make peer review more effective.
Ancient Rome: A genetic crossroads of Europe and the Mediterranean
Rome wasn't built (or settled) in a day. Antonio et al. performed an ancestral DNA analysis to investigate the genetic changes that occurred in Rome and central Italy from the Mesolithic into modern times. By examining 127 Roman genomes and their...
quinlan-lab/STRling
Detect novel (and reference) STR expansions from short-read data - quinlan-lab/STRling
Their lives in their hands
The devastating diagnosis of a rare disease is prompting an increasing number of people to go to the bench and take research into their own hands
bioRxiv: the preprint server for biology
The traditional publication process delays dissemination of new research, often by months, sometimes by years. Preprint servers decouple dissemination of research papers from their evaluation and certification by journals, allowing researchers to...