Joelle Mbatchou
@joellembatchou
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Statistician. Avid book reader, world traveler and cook (recipes are welcome).
NY
Joined July 2014
Introducing REGENIE v3.0 https://t.co/nhRBuhz91L that adds another set of cool new features! Joint work with @covariani and @marchini at @RegeneronDNA 1/n
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Exciting news from the RGC team! Our latest paper in Nature Genetics introduces REMETA – a new tool for large-scale genetic meta-analysis. Check out the full paper: https://t.co/ayiWt5Xo9L
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JOB ADVERT If you work in statistical genetics/machine learning/imaging and want to join the amazing RGC team @RegeneronDN working on some of the largest and most ancestrally diverse genetic datasets in the world, then check out this role
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Check out the release for more details and to obtain pre-compiled binaries. We appreciate all user feedback to improve the tool! https://t.co/ygbNLfUVGS
github.com
Timing reduction for single variant association tests in step 2 with hard-call genotype data (e.g. WES/WGS). New option --weights-col to specify custom weights to use in gene-based tests (see do...
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Finally, we add an option to disable dosage compensation on chrX (`--skip-dosage-comp`) when testing for variants in non-PAR regions of chrX, another feature also requested by users.
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You can now specify custom weights to be used for gene-based tests through the annotation input file using options `--weights-col`. After many requests, we are happy to make it available and looking forward to user feedback 🙂.
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We introduce a new output format for summary statistics (`--htp`) which is compatible with our recently released tool REMETA. It provides more information such as genotype counts, and confidence intervals compared to the native REGENIE output format. https://t.co/PKrDvOMVRI
github.com
Contribute to rgcgithub/remeta development by creating an account on GitHub.
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This update brings improvement in association testing with hard-call genotype data (e.g. WES/WGS).
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Introducing a new method called REMETA from the Regeneron Genetics Center (RGC) @RegeneronDNA for meta-analysis of gene-based tests using summary statistics https://t.co/Bv3pqMB1iy This is great work from Tyler Joseph. Pre-print is here https://t.co/CffQXSZPv2
medrxiv.org
Meta-analysis of gene-based tests using single variant summary statistics is a powerful strategy for associating genes with disease. However, current approaches require sharing the covariance matrix...
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Great work from my colleagues @zou_yuxin and @marchini! If you are at #ASHG2024, please check Yuxin's poster on REGENIE-COX later today 2:30-4PM (Poster #4113T)
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Documentation is also live on the website with directions on how to use REGENIE-COX today! https://t.co/7aOQ2tBsPU
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We introduce a fast approximate Firth test leveraging the same strategy for binary traits with many covariates. This enables REGENIE-COX to be robust to inflation due to low event rates (i.e. case-control imbalance with few observed events).
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Using REGENIE's whole genome regression framework combined with cox proportional hazard regression, we carry out association tests that are robust to population structure/relatedness and lead to improved power performance compared to binary trait analyses under certain settings.
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REGENIE v4.0 is live!🎉 You can now analyze time-to-event phenotypes, leveraging power gains with case-control phenotypes where time-to-event information is available. https://t.co/UTp3RGrNof
github.com
regenie is a C++ program for whole genome regression modelling of large genome-wide association studies. - rgcgithub/regenie
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We’re excited to introduce a method for genetic testing in exome-wide association studies: the Sparse Burden Association Test (SBAT). This innovative gene-based approach combines information across different burden tests to boost power and select the most important tests.
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😮💨Phew - it only took 2 years but our #GWAS of influenza (40k cases, 1.31M controls) is finally out in @NatureGenet. https://t.co/sRFiqgpyLY
nature.com
Nature Genetics - Genome-wide analyses identify variants in B3GALT5 and ST6GAL1 associated with influenza susceptibility. Knockdown of ST6GAL1 in cell culture reduces influenza infectivity, likely...
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Today, RGC has published an important paper in @Nature today, describing an analysis of close to a million human exomes (n=983,578) as a single variant call set (!). This is the largest and most diverse rare variant database created so far. This impressive feat is accomplished by
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One of the most prestigious conference in quantitative genetics is happening in Vienna this summer with a superstar-packed invited speaker lineup: https://t.co/jAKfXm5VX3
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SISG registrations are heating up - just a dozen scholarship slots remain - be sure to get in early to avoid fees. We're particularly interested in applications for the introductory courses on statistics, genetics, and programming. @GTBiology @GeorgiaTech @genomestake
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