Girirajan Lab
@girirajanlab
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Account run by graduate students in the Girirajan lab, Pennsylvania State University
University Park, PA
Joined July 2015
I am excited to present @DeeproBanerjee's cross-ancestry analysis of >720k individuals identifying 116 novel genes associated with BMI (50 risk and 66 protective), with functional relevance to obesity.
medrxiv.org
Gene discoveries in obesity have largely been based on European cohorts, leading to an ancestral bias, that limits their generalizability across populations. We performed a gene-based rare variant...
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I am very excited to present our manuscript, led by @JensenGenetics, on the influences of genetic modifiers and cohort ascertainment on variable expressivity of neurodevelopmental disorders. We believe this work is generalisable to complex disorders.🧵 https://t.co/pjV11Nl9yx
medrxiv.org
Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of...
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Congratulations to Santhosh Girirajan, professor of biochemistry and molecular biology, for being named head of the Department of Biochemistry and Molecular Biology! Read more about him at https://t.co/sZKCWJhkSU
#PennStateBMB
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.@AJHGNews sat with @girirajan16, MBBS, PhD, from @penn_state in the latest "Inside AJHG", to discuss his recently published paper, “Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.” ➡️ https://t.co/BeM4qdKfb4
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Our recent paper is online now!
Our (revised) manuscript is now published in @AJHGNews
https://t.co/z7SVsAb4HI. Thanks to reviewers' feedback for our original/biorxiv version that helped improve the paper. @PSUScience
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Our recent review in @TrendsGenetics led by my grad student @JiawanSun is now out
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3) PB4764. Functional characterization of the developmental delay-associated 16p12.1 deletion using iPSCs (abstract title). We changed the title to Functionally characterization of the “two-hit” model in genetic disorder using iPSCs. We are exciting to show new findings.
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2) PB4301. Non-additive interactions of rare variants and lifestyle factor contribute to obesity. Deepro optimized and applied our previously published algorithm RareComb. RareComb paper:
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We are presenting posters at #ASHG23 . Stop by and check our posters. 1) PB1365. Assortative mating and parental genetic similarity drive pathogenicity of variably expressive variants. Corrine’s recent manuscript: https://t.co/oDxMSgaZYN (1/3)
medrxiv.org
We examined more than 38,000 spouse pairs from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents associated with neurodevelopmental...
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Our rock star @Maitreya150192 passed his defense! Congratulations, Dr. Das!!!
I am super proud that my graduate student @Maitreya150192 successfully defended his PhD. Maitreya's work focused on dynamic activities of enhancers and their downstream effects. While his other papers are in process, a relevant paper is https://t.co/pRTlT8BHIv
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Moi, congrats!🎈🎊🎉
Our Perspective on challenges and reproducibility of STARR-seq experiments is now published in @genomeresearch, led by graduate student @Maitreya150192. @BMB_PSU @PSUScience and @huckinstitutes. https://t.co/rufIemgp7e
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A revised version of "Challenges and considerations for reproducibility of STARR-seq assays" is now on @biorxivpreprint. https://t.co/db7lSawOX7
Super excited to present our new perspective, led by my talented graduate student @Maitreya150192, on the challenges and considerations for reproducibility of STARR-seq assays. @PSUScience @huckinstitutes 1/
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Super excited to present our new perspective, led by my talented graduate student @Maitreya150192, on the challenges and considerations for reproducibility of STARR-seq assays. @PSUScience @huckinstitutes 1/
biorxiv.org
High-throughput methods such as RNA-seq, ChIP-seq and ATAC-seq have well-established guidelines, commercial kits, and analysis pipelines that enable consistency and wider adoption for understanding...
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Please RT! Multiple postdoctoral positions to study iPSC, Drosophila, and mouse models of neurodevelopmental disorders are available my lab (funded by NIH) ( https://t.co/7D37xIEo7X). Link to my papers - https://t.co/kgAQVvFUcw Please DM me for details.
pubmed.ncbi.nlm.nih.gov
Girirajan S - Search Results - PubMed
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