It's @PGCgenetics AGM time! Ole Andreassen deputises for Pat Sullivan as the chair #WCPG2022
@PGCgenetics 17 working groups now - meet the work group leaders sessions running across the week #WCPG2022
(Alzheimer's disease update to be added this evening - computer died due to lack of power sockets)
Anxiety - come to the anxiety disorder symposium on Wednesday 1015 to find out what progress has been made! #WCPG2020
ADHD: New GWAS earlier this year on medarxiv medrxiv.org/content/10.110…. Lots of insights, especially into biology and role of cognition (expanding into cognition sub group) #WCPG2022
ASD: much advance this year, including numerous secondary analysis papers. New GWAS freeze in progress. Hear more in ASD Oral session on Wednesday #WCPG2022
Bipolar disorder: new multi ancestry GWAS, considerable increase in GWS hits. See bipolar meeting on Wednesday. Also examining subphenotypes via clinician-led effort. Hoping to coordinate more with imaging and sequencing efforts in future. #wcpg2022
CNVs: @sebatlab highlights numerous papers and presentations across the conference. Expanded and expanding across disorders. Seeing associations, somewhat differing across disorders. CNVs and rare variants across all disorders, esp. functionally constrained genes #WCPG2022
Eating disorders: @psychgenomics updates on ongoing freezes for anorexia and binge eating (see Wednesday symposium), as well as strong contributions from secondary analyses. Policy work to increase priority for eating disorders. Other psych phenos available! #WCPG2022
@cathrynlewis and @mcintosh2001 for MDD: new GWAS, large increase in GWS hits giving biological and stuff insights. Transancestry work from @KKuchenbaecker demonstrating genomic differences across ancestries. Expanding into epigenetic analyses. #WCPG2022
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PGC 1000+ scientists from 50+ countries. Primary funding from NIH, but many others as well. 8 sites, 16 PIs in USA, UK, and Ireland. Coordinating committee including regional representatives. #WCPG2022
I am in the #WCPG2022 IDEA plenary, which discusses the need and approaches to decolonising psychiatric genetics. Panel members are Olivia Matshabane, Paola Giusti-Rodriguez @paolagiustirodriguez, @hailianghuang, and @MeeraPurushott1. Chairs are Lea Davis and John Nurnberger.
[I will tweet as much as I can here, but a discussion is always more challenging to tweet]
First question highlights the impact of colonialism in research. This includes lack of resources and support for ECRs, the need for engaging with and working alongside studied groups throughout the research process, including subsequent data storage, access and usage. #WCPG2022
Next is Omar Shanta who will talk about a GWAS of CNVs in 500k individuals (127k cases, mostly EUR, some AFR). Needed consistent CNV calling across entire cohort. Difficult platforms, which makes things challenging. #WCPG2022
Aims: what is the contribution of rare CNVs, which are those CNVs per disorder, how do rare CNVs compare across disorders? #WCPG2022
Assess multiple metrics of CNV burden, comparing tier 1 (pli > 0.5) and tier 2 (pLI < 0.5). #WCPG2022
I'm back (after a slightly longer lunch) - @juandelahozco is presenting on longitudinal trajectories in the EHR from the Clínica San Juan de Dios, Manizales, Colombia. #WCPG2022
Diagnoses of severe mental illness from ICD10, validated against structured interview and chart review. Some BIP-MDD mismatches (see tweets on @loldeloo talk earlier), but agreement is generally very good, especially for SCZ #WCPG2022
Want to extract presentation information from notes - developed NLP algorithm, required named entity recognition and negation detection. Extracted features align with ICD10 codes #WCPG2022
I am in the PUMAS session at #WCPG2022, listening to @b_gelaye talking about the NeuroGAP study
NeuroGAP seeks to build collaboration across Africa, particularly across early career researchers. Phenotyping working group has members across Kenya, Uganda, Ethiopia and South Africa, as well as from the Broad. Lots of clinicians, valuable for building phenotypes #WCPG2022
8 phenotyping manuscripts accepted, 8 more to come, describing the details of psychiatric phenotyping within and across different African countries #WCPG2022
It's day 3, and @sebatlab is outlining the spectrum of genetic influences that affect autism. Clear that although there are strong rare variant effects, these are not monogenic disorders #WCPG2022
Combining together results from common, rare, and structural variants allows a broader picture of genetic risk. See over-transmission of genetic risk at all levels from parents to affected children #WCPG2022
Can combine common and rare variants together into scores that are more predictive than either score alone. Inverse correlation - individuals with autism with high rare score tend to have lower common score [conditional on having autism - crosses liability threshold] #WCPG2022