Ran Cui
@RanCui2
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Staff scientist @broadinstitute @MGH_RI
Joined January 2021
I'm excited to share our new fine-mapping methods: SuSiE-inf and FINEMAP-inf. We improve upon the current state-of-the art methods by modeling infinitesimal effects while fine-mapping larger causal effects. 🧵 1/n
biorxiv.org
Fine-mapping aims to identify genetic variants that causally impact a given phenotype. State-of-the-art Bayesian fine-mapping algorithms (for example: SuSiE[1][1], FINEMAP[2][2],[3][3], ABF[4][4],...
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Our SLALOM paper is now out in @CellGenomics!🎉 Huge thanks again to Roy Elzur @weizhouw @dalygene and Hilary Finucane as well as all the analysts & participants in @GlobalBiobanks
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Our software implementation is available at https://t.co/LcWnVTN75c. Runtime is comparable to existing methods. 5/n
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Using the posterior effect sizes of the sparse component generated by our methods to perform polygenic risk score predictions (PRS) significantly improves prediction accuracy. 4/n
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We performed simulations with model/prior misspecifications and demonstrated that non-sparse causal effects can be a contributor to miscalibration. Our new methods, where we model infinitesimal effects in addition to sparse causal effects can ameliorate this miscalibration. 3/n
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State-of-the art methods may be miscalibrated when applied in real data. We found higher-than-expected Replication Failure Rates for SuSiE, FINEMAP and COJO-ABF when fine-mapping @uk_biobank. In contrast, RFRs are low in simulations without model/prior misspecifications. 2/n
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I'm excited to share our new fine-mapping methods: SuSiE-inf and FINEMAP-inf. We improve upon the current state-of-the art methods by modeling infinitesimal effects while fine-mapping larger causal effects. 🧵 1/n
biorxiv.org
Fine-mapping aims to identify genetic variants that causally impact a given phenotype. State-of-the-art Bayesian fine-mapping algorithms (for example: SuSiE[1][1], FINEMAP[2][2],[3][3], ABF[4][4],...
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Excited to share our latest manuscript on complex trait fine-mapping across diverse populations! This is a collaborative effort across BioBank Japan @FinnGen_FI and @uk_biobank with mentorship from Hilary Finucane @dalygene @okada_yukinori. Here is 🧵 1/n https://t.co/lnRWRXjrTA
medrxiv.org
Despite the great success of genome-wide association studies (GWAS) in identifying genetic loci significantly associated with diseases, the vast majority of causal variants underlying disease-assoc...
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Types of human genetics papers in which I come for all of you and then for myself:
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We (@skdeshpande91, @ta_broderick and myself) have a new pre-print out now! It’s called “Confidently comparing estimators with the c-value”. https://t.co/wEU4n7aYBD
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I've been incredibly lucky to work on many large, collaborative projects in human genomics during my PhD w/@TalkowskiLab I wrote an informal blog post on three lessons I've learned, with some (surely naive) thoughts on future directions for our field: https://t.co/OXKIXUSXjk
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This is the stuff great problems are made of: Simple enough that 10 year olds can understand it, complex enough to remain unsolved for over 50 years now
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More than a strict P<5e-8 cut off, biological evidence to support the loci matters more. Here the authors show that ~92% of the 2010 BMI loci at P<5e-5 that overlapped with adipocyte promoters turned out to be genome-wide significant later in 2018. https://t.co/FOnY3d2vZo
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