Joni Coleman Profile picture
Sep 13 11 tweets 6 min read
After a brief break for questions, round 2 #wcpg2022
@immaqua describes OCD progress. GWAS ongoing (numerous hits - see symposium on Saturday) and shared with cross disorder efforts. Symptoms analyses yielding publications. Next freeze - diversity and addressing heterogeneity #WCPG2022
Tourettes syndrome WG: new GWAS freeze with GWS hits and replications. Numerous secondary analysis papers from trainees. CNV efforts as well. Oral session on Saturday. Future collaborations across imaging and functional analysis #WCPG2022
Outreach - PGC website updated pgc.unc.edu. Continuing working group takeovers of @PGCgenetics and promotion of lived experience commentary on psychiatric genetics. Expanding outreach to increase diversity and promote jobs and studies #WCPG2022 #livedexperiences
Pedigree sequencing. Deeply analysed 31 pedigrees. Want to boost diversity of disorder focussed as well as ancestries. Identified deleterious variants. Developed and published new methods. Work ongoing - need to understand more of role of noncoding variants #wcpg2022
@cnievergelt presents for PTSD - recent quantitative GWAS and CNV publications. Over 20 papers from subgroups. Expanding case control GWAS using electronic health records, including transancestry work. Contributing to cross disorder. Methods development cross ancestry #WCPG2022
@drjameswalters for SCZ: PGC3 published this year alongside SCHEMA paper, with convergent results. Early release of sumstats has led to lots of secondary analyses. Following up biological findings esp neuronal enrichment. Working to increase diversity #WCPG2022
Substance use - examining common genetic factors across substance use phenotypes. New variant discovery for individual substance use. Large GWASs in progress - reach out to collaborate! Interested in substance use in international context #wcpg2022
Suicide - fast growing new WG. Numerous GWAS of suicide attempt in EUR and across ancestries. Estimate heritability, find GWS associations. Consistent architecture across civilian and military cohorts. Not just MDD. Expanding rapidly and globally - connect to contribute #WCPG2022
Cross disorder from @jorsmo - many efforts across different methods through pooling disorders showing and dissecting overlap - see symposium on Saturday. Now 5 latent factors for psych disorders. #wcpg2022
@PGCgenetics always looking for new data and new collaborators - get in touch at pgc.unc.edu if you want to get involved! #wcpg2022

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More from @Joni_Coleman

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
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
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
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
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
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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