Daniel MacArthur
Genomics, big data, open science. Director of the Centre for Population Genomics at @GarvanInstitute and @MCRI_for_kids
Last synced from Twitter 125d ago
Volume 586 Issue 7831, 29 October 2020
Volume 586 Issue 7831, 29 October 2020
The Lockdown That Felt Like It Might Last Forever Has Finally Ended
Melbourne, Australia’s second-largest city, emerged from its 111-day hibernation with a mix of euphoria and caution.
This Is the Coronavirus Election
In January, the COVID-19 pandemic will still be burning its way across the U.S. Next week, Americans will choose whether to bring it under control.
Public Discussion Affects Question Asking at Academic Conferences
Women are under-represented in science, technology, engineering, and mathematics (STEM). Despite the recent emphasis on diversity in STEM, our understanding of what drives differences between women and men scientists remains limited. This, in turn,...
Genome-wide analysis of blood lipid metabolites in over 5,000 South Asians reveals biological insights at cardiometabolic disease loci
Background: Genetic, lifestyle, and environmental factors can lead to perturbations in circulating lipid levels and increase risk of cardiovascular and metabolic diseases. However, how changes in individual lipid species contribute to disease risk...
Doctors May Have Found Secretive New Organs in the Center of Your Head
They appear to be a fourth pair of large salivary glands, tucked into the space where the nasal cavity meets the throat.
STING cyclic dinucleotide sensing originated in bacteria
Stimulator of interferon genes (STING) is a receptor in human cells that senses foreign cyclic dinucleotides released during bacterial infection and endogenous cyclic GMP–AMP signalling during viral infection and antitumour immunity1–5. STING shares...
How a Pioneering Covid Testing Lab Helped Keep Northeast Colleges Open
One reason many Northeastern colleges have experienced few coronavirus outbreaks has been a testing operation run by Broad Institute of MIT and Harvard with 14-hour turnaround times and low-cost tests.
Search Results | bioRxiv
bioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution
COVID-19 Testing & The Danger of a Quick Fix Narrative
For months now, you have woken each day to a world that is both maddening and heartbreaking. You sip coffee and scroll through the day’s…
The design and construction of reference pangenome graphs with minigraph
The recent advances in sequencing technologies enable the assembly of individual genomes to the quality of the reference genome. How to integrate multiple genomes from the same species and make the integrated representation accessible to biologists...
The Pandemic Experts Are Not Okay
Many American public-health specialists are at risk of burning out as the coronavirus surges back.
Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Analysis of 97,691 high-coverage human blood DNA-derived whole-genome sequences enabled simultaneous identification of germline and somatic mutations that predispose individuals to clonal expansion of haematopoietic stem cells, indicating that both...
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Daniel MacArthur
Interested in exploring the contribution of rare genetic variants to gene expression? @drjosephpowell and I are looking for postdocs to lead analyses of a new data set of >1,000 whole-genome-sequenced individuals with scRNA-seq data. More details
139d
Release bugfix for vcfs with >256 info fields · brentp/slivar
v0.1.13
fix bug with VCFs with >256 info fields (#74). Thanks @liserjrqlxue for making a great test-case.
Installation
Just grab the binary
You can download it and use it without any other softwa...
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of
vision and blindness, was investigated in families lacking a molecular diagnosis.
A refined locus for adRP on Chr17q22 (RP17) was delineated through genotyping...
COVID-19 Preprints and Their Publishing Rate: An Improved Method
Abstract Context: As the COVID-19 pandemic persists around the world, the scientific community continues to produce and circulate knowledge on the deadly disease at an unprecedented rate. During the early stage of the pandemic, preprints represented...
Mendelian randomization identifies the potential causal impact of dietary patterns on circulating blood metabolites
Nutrition plays an important role in the development and progress of several health conditions, but the exact mechanism is often still unclear. Blood metabolites are likely candidates to be mediating these relationships, as their levels are strongly...