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Jack Fu

Researcher at Harvard University

Publications -  28
Citations -  945

Jack Fu is an academic researcher from Harvard University. The author has contributed to research in topics: Copy-number variation & Medicine. The author has an hindex of 6, co-authored 17 publications receiving 368 citations. Previous affiliations of Jack Fu include Johns Hopkins University & Broad Institute.

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A structural variation reference for medical and population genetics

TL;DR: A large empirical assessment of sequence-resolved structural variants from 14,891 genomes across diverse global populations in the Genome Aggregation Database (gnomAD) provides a reference map for disease-association studies, population genetics, and diagnostic screening.
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

TL;DR: The authors explored the genes disrupted by these variants from joint analysis of protein-truncating variants (PTVs), missense variants and copy number variants (CNVs) in a cohort of 63,237 individuals.
Posted ContentDOI

A cross-disorder dosage sensitivity map of the human genome

TL;DR: In this article, the authors meta-analyzed rCNVs from 753,994 individuals across 30 primarily neurological disease phenotypes to create a genome-wide catalog of rCNV association statistics across disorders.
Posted ContentDOI

An open resource of structural variation for medical and population genetics

TL;DR: A reference atlas of SVs from deep whole-genome sequencing of 14,891 individuals across diverse global populations as a component of gnomAD is constructed, finding strong correlations between constraint against predicted loss-of-function (pLoF) SNVs and rare SVs that both disrupt and duplicate protein-coding genes.
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Activity-Dependent Degradation of the Nascentome by the Neuronal Membrane Proteasome

TL;DR: It is found that the NMP degrades exclusively a large fraction of ribosome-associated nascent polypeptides that are being newly synthesized during neuronal stimulation and proposed that these findings generally define a neuronal activity-induced protein homeostasis program of coordinated protein synthesis and degradation through the N MP.