Nikhil Milind
@TheNikhilMilind
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Genomics | Statistical Modeling | Complex Traits Doctoral Student at @StanfordBiosci
Joined August 2019
For many traits there is a correlation between the number of duplications or loss-of-function (LoF) mutations someone carries, and their phenotype. Curiously, for most traits, these effects are aligned in the SAME direction. Why?
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RT @Luke0connor: New preprint on a surprising question - with a pangenome reference, *what is a genetic variant?*. .
biorxiv.org
Structural variation causes some human haplotypes toalign poorly with the linear reference genome, leading to 'reference bias'. Apangenome reference graph could ameliorate this bias by relating a...
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RT @Hakha_Most: I'm thrilled that my lab at NYU is now supported by an NIH MIRA grant! I'm looking to hire 1-2 senior lab members (outstand….
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RT @AJHGNews: 📣New today!.📄Haplotype analysis reveals pleiotropic disease associations in the HLA region.🧑‍🤝‍🧑 @jkpritch @FinnGen_FI & col….
cell.com
The HLA region plays an important role in human health but is often excluded in large-scale GWASs. We performed haplotype-based associations from genotype data to investigate pleiotropy across...
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RT @jkpritch: Staff scientist position (computational):. I am looking for a computational scientist to join my genomics lab at Stanford. Th….
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RT @Hakha_Most: It was fun writing this short piece on the omnigenic model. Sharing it here, though it's a painful time as my family, along….
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RT @doctorveera: Past eQTL studies have mostly focused on one gene at a time. But in the human genome, genes often occur in clusters and te….
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RT @pnatarajanmd: Common variants influencing gene expression, often influence multiple genes, yet GWAS secondary analyses prioritize singl….
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RT @xinyi__li: Excited to share our latest preprint on the impact of background selection on complex trait evolution. It’s amazing to final….
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RT @GeneticsGSA: In #GENETICS, @RoshniAPatel, @spence_jeffrey_, @jkpritch, and colleagues explored the use of conditional frequency spectra….
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RT @DubocDan: I’m excited to share the first manuscript out of my PhD work with @NAltemose, in which we describe FiberFold: a deep learning….
biorxiv.org
The three-dimensional (3D) architecture of the genome plays a crucial role in gene regulation and various human diseases. Short-read sequencing methods for measuring 3D genome organization are...
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RT @TAmariuta: Announcing a new preprint from my lab from my talented grad student Ziqi Xu! We created scGeneHE (pronounced sc-genie) to fu….
biorxiv.org
For gene expression traits, cis -genetic heritability can quantify the strength of genetic regulation in particular cell types, elucidating the cell-type-specificity of disease variants and genes. To...
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RT @garykbrixi: Thrilled to see Evo 2 out. We trained a model across DNA from all domains of life, enabling mutation scoring, sequence embe….
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RT @MinetoOta: Thank you Jonathan for the elegant explanation of our recent work!. We dove into how we can model the gene regulatory archit….
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RT @jkpritch: GWAS provides a unique tool in human biology as it can establish causal links from variants to trait. But interpretation….
biorxiv.org
Genetic association studies provide a unique tool for identifying causal links from genes to human traits and diseases. However, it is challenging to determine the biological mechanisms underlying...
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RT @jkpritch: Modern GWAS can identify 1000s of hits but it can be hard to turn this into biological insight. What key cellular functions l….
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RT @biorxiv_genetic: Causal modeling of gene effects from regulators to programs to traits: integration of genetic associations and Perturb….
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RT @alvinahere: Super excited to share my first grad school paper! It was so much fun working on this collaborative project from day one as….
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RT @Hakha_Most: Excited to share our latest work! We find that common-variant GWAS and rare-variant burden tests prioritize genes in fundam….
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RT @jkpritch: If you do GWAS or rare variant association studies, check out this short thread on the concept of SPECIFICITY, and why it is….
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RT @jkpritch: Super excited to release this new preprint:. Jeff and Hakhamanesh drill into key questions about GWAS and rare variant studie….
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