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Sep 13 • 5 tweets • 3 min read
Finally in this session we hear from the @PGCgenetics diversity working groups. First up is the (new!) Consortium for Africa. Numerous African genomics leaders discuss the context and value of the diverse, distinctive human genome in Africa #WCPG2022
Cross-population analyses WG. Working to develop methods. Working with outreach group to highlight (lack of) diversity in psych genomics. Expanding research, grants going in! #WCPG2022
@LAGCPsychGene discuss their work in Latin America. Building large genotype cohorts and beginning GWAS across multiple traits. Methods development too and capacity building. Many collaborators from Latin America. Come and find the @LAGCPsychGene on Wednesday! #WCPG2022
(Hey @PGCgenetics - can we have subtitles for all recorded talks? No reason not to be globally accessible!) #WCPG2022
Contact @conrad_iyegbe if you are interested in getting involved with the Africa working group! #WCPG2022

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More from @Joni_Coleman

Joni Coleman Profile picture
Sep 15
@cathrynlewis introduces the @PGCgenetics showcase event. #WCPG2022
First Pat Sullivan electronically introduces the @PGCgenetics #WCPG2022
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
Read 35 tweets
Joni Coleman Profile picture
Sep 15
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
Read 17 tweets
Joni Coleman Profile picture
Sep 15
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
Read 20 tweets
Joni Coleman Profile picture
Sep 15
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
Read 13 tweets
Joni Coleman Profile picture
Sep 15
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
Read 27 tweets
Joni Coleman Profile picture
Sep 15
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
Read 18 tweets

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