Giulio Genovese
@freeseek82
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Senior Computational Biologist, Stanley Center, Broad Institute
Cambridge, MA
Joined December 2010
RT @joe_pickrell: Interesting study on sex chromosome trisomies and their phenotypic impacts using large biobanks Prevalence of sex chromo…
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RT @s_mccarroll: Excited to share the paper: Huntington's disease is a DNA process for almost all of a cell's life. Inherited HD alleles…
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RT @EichlerLab: Our new Nature Genetics paper on human segmental duplications (SDs) provides a pangenome perspective of SDs, new potential…
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RT @Rbn_Hfmstr: 🚨 Our preprint on parent-of-origin effects (POEs) is out! With our new method, we inferred the parental origin of >220,000…
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RT @joellembatchou: REGENIE v4.0 is live!🎉 You can now analyze time-to-event phenotypes, leveraging power gains with case-control phenotype…
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RT @SannaCherchiLab: 15 years ago #APOL1 risk variants were implicated in kidney disease and #FSGS. Directed therapies are at the doorstep,…
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RT @htslib: Release 1.21 of HTSlib, SAMtools, and BCFtools is now available from GitHub. See for links to tarballs…
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@GenomeNathan @doctorveera The large peak is due to the very high correlation between local ancestry and the Duffy genotype, together with the small number of generations since the beginning of the admixture between European and African genomes
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RT @camerongenomics: VCFv4.5 has been finalised! Many thanks for all feedback during the two release candidate public consultation periods.…
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Congratulations @s_mccarroll and well deserved!
⭐️ Big news! HHMI is investing $300+ million in 26 new #HHMIInvestigators from 19 US institutions. These top scientists will drive groundbreaking research in diverse fields, from neuroscience to immunology to structural biology & beyond. Welcome to HHMI!
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@SashaGusevPosts You say that the value is limited but so is the cost as the same data used for preimplantation genetic testing for aneuploidy (PGT-A) can be used to infer polygenic scores. For couples doing IVF anyway the question should be: why should they not do it?
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@petrdanecek for BCFtools, @ODelaneau for SHAPEIT5, @simrubk for IMPUTE5, @joellembatchou for REGENIE, the Cromwell team at the Broad Institute for Cromwell, and many others. Our work would not have been possible without your efforts
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@NCIEpiTraining @mitchiela @NIH Congratulations Mitch! It's been a pleasure to work together on different projects. I look forward to more to come
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@ChikashiTerao Thank you @ChikashiTerao. It is researchers like you that have inspired me over the years to make DNA microarray analyses (mostly for the detection of mosaic chromosomal alterations) widely accessible. It is great to see these algorithms applied on data from millions of samples
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@wallacemwang idat2gtc creates the same GTC files AutoConvert/iaap-cli/array-analysis-cli creates (it should get the same md5sum) so it does not bring anything new beyond being much faster and providing the source code. I have never been convinced microarray is a good assay for rare variants
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The source code of idat2gtc is released as a single file under the MIT licence and is mathematically equivalent to Illumina's AutoCall, allowing researchers to have detailed documentation for how Illumina's DNA microarray data has been processed over the last two decades 8/8
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