Impact of cross-ancestry genetic architecture on GWAS in admixed populations https://www.biorxiv.org/content/10.1101/2023.01.20.524946v1
andrea ganna
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- 95 Posts
FIMM-EMBL group leader @FIMM, also MGH/Harvard
Playing with all kind of data
www.dsgelab.org
Great resource! we have already used it (thanks @[email protected] and team) to generate 1M synthetic genomes https://www.biorxiv.org/content/10.1101/2022.12.22.521552v1
Looking for an easily accessible diverse set of genomes? We've got you! The HGDP+1kGP genomes have been jointly called and QC'd as part of gnomAD, complete with SNVs, indels, and SVs: https://www.biorxiv.org/content/10.1101/2023.01.23.525248v1. Fully public resource, tutorials included, feedback welcome!
🐦🔗: https://twitter.com/genetisaur/status/1617901263349518336
Excited to kick-off and hire for the @[email protected] project funded by @[email protected] @[email protected] to tackle the #neurological and #neuropsychiatric complications of #LongCovid all the way from #singlecell #deconvolution to mechanisms in #brain #organoids to #population #registries /1
Giuseppe Testa on Twitter
“Excited to kick-off and hire for the @NEUROCOV_eu project funded by @EU_Commission @EU_HaDEA to tackle the #neurological and #neuropsychiatric complications of #LongCovid all the way from #singlecell #deconvolution to mechanisms in #brain #organoids to #population #registries /1”
How much does a child's gestational age impact their cognitive abilities later in life? 🧠
Our study (https://www.bmj.com/content/380/bmj-2022-072779) published in the BMJ (@[email protected]) "Gestational age at birth and cognitive outcomes in adolescence" digs into this question.
Read 🧵 for our results👇
Gestational age at birth and cognitive outcomes in adolescence: population based full sibling cohort study
Objective To investigate the association between gestational age at birth and cognitive outcomes in adolescence. Design Nationwide population based full sibling cohort study. Setting Denmark. Participants 1.2 million children born between 1 January 1986 and 31 December 2003, of whom 792 724 had one or more full siblings born in the same period. Main outcome measures Scores in written language (Danish) and mathematics examinations as graded by masked assessors at the end of compulsory schooling (ninth grade, ages 15-16 years), in addition to intelligence test score at military conscription (predominantly at age 18 years) for a nested sub-cohort of male adolescents. School grades were standardised as z scores according to year of examination, and intelligence test scores were standardised as z scores according to year of birth. Results Among 792 724 full siblings in the cohort, 44 322 (5.6%) were born before 37+0 weeks of gestation. After adjusting for multiple confounders (sex, birth weight, malformations, parental age at birth, parental educational level, and number of older siblings) and shared family factors between siblings, only children born at <34 gestational weeks showed reduced mean grades in written language (z score difference −0.10 (95% confidence interval −0.20 to −0.01) for ≤27 gestational weeks) and mathematics (−0.05 (−0.08 to −0.01) for 32-33 gestational weeks, −0.13 (−0.17 to −0.09) for 28-31 gestational weeks, and −0.23 (−0.32 to −0.15) for ≤27 gestational weeks), compared with children born at 40 gestational weeks. In a nested sub-cohort of full brothers with intelligence test scores, those born at 32-33, 28-31, and ≤27 gestational weeks showed a reduction in IQ points of 2.4 (95% confidence interval 1.1 to 3.6), 3.8 (2.3 to 5.3), and 4.2 (0.8 to 7.5), respectively, whereas children born at 34-39 gestational weeks showed a reduction in intelligence of <1 IQ point, compared with children born at 40 gestational weeks. Conclusions Cognitive outcomes in adolescence did not differ between those born at 34-39 gestational weeks and those born at 40 gestational weeks, whereas those with a gestational age of <34 weeks showed substantial deficits in multiple cognitive domains. Data can be obtained by submitting a research protocol to the Danish Data Protection Agency and by applying to the Ministry of Health’s Research Service, Statistics Denmark, and the Danish Ministry of Defence, respectively. The data do not belong to the authors, and they are not permitted to share data, except in aggregate form.
Congrats to colleaugues at decode and Scandinavia for this work.great to be part of it
https://www.nature.com/articles/s41588-022-01286-7
Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism - Nature Genetics
Genome-wide association analyses identify 93 risk loci for venous thromboembolism (VTE). A polygenic score derived from these results identifies individuals at increased VTE risk equivalent to monogenic forms of the disease.
🧵4/4 Check out also the related Research Briefing "A framework to assess the effects of genetic risk factors on disability-adjusted life years"
https://www.nature.com/articles/s41591-022-01958-1
🐦🔗: https://twitter.com/NatureMedicine/status/1616489125846056996
A framework to assess the effects of genetic risk factors on disability-adjusted life years - Nature Medicine
Using population data on genetics and diseases and estimates of disability-adjusted life years, we generated a framework for estimating the effects of genetic factors on healthy life years, similar to the risk assessment framework for traditional modifiable epidemiological risk factors. This framework will help to inform the development and implementation of genetic-based clinical applications.
🧵3/4 A study combining data from large #biobanks and the Global Burden of Disease study estimates that genetic risk factors significantly impact the number of healthy life years lost both at the individual and population level @[email protected] @[email protected] https://www.nature.com/articles/s41591-022-01957-2
🐦🔗: https://twitter.com/NatureMedicine/status/1616489123250077696
Genetic risk factors have a substantial impact on healthy life years - Nature Medicine
A new analysis combining data from large biobanks and the Global Burden of Disease study estimates that genetic risk factors significantly impact the number of healthy life years lost both at the individual and population level
In the flagship study, the @[email protected] team describes results based on 224,737 Finnish biobank participants. After comprehensive genetic analyses, the team identified almost 2,500 genomic regions that are linked with some of the studied 1,900 diseases.
https://www.nature.com/articles/s41586-022-05473-8
🐦🔗: https://twitter.com/FinnGen_FI/status/1615744053227790343
FinnGen provides genetic insights from a well-phenotyped isolated population - Nature
Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common diseases.
BOOM! Our genes influence which medications we are going to use in our lives! Our study on genetic predictors of lifelong medication use in cardiometabolic diseases finally out and published in @[email protected] https://www.nature.com/articles/s41591-022-02122-5
🐦🔗: https://twitter.com/i_am_dr_doom/status/1616006160061980677
Genetic predictors of lifelong medication-use patterns in cardiometabolic diseases - Nature Medicine
A new analysis of large biobanks uncovers genetic variants associated with longitudinal changes in medication for cardiometabolic diseases and presents polygenic scores of medication-use behavior.
Along with the @[email protected] flagship paper, an amazing team effort and demonstration of the power of Finnish biobank data, I’m excited to present two papers from my team using the same resource also out today 1/n https://twitter.com/finngen_fi/status/1615744050883170307
🐦🔗: https://twitter.com/ttukiainen/status/1615794596319039489