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Profile

Joshua Weinstock

  • Department of Human Genetics
    Assistant Professor
  • (404) 727-4241
  • josh.weinstock@emory.edu
  • Website
  • Website

  • 615 Michael St NE, Suite 347
Head shot of Joshua Weinstock

Overview

The Weinstock lab works at the nexus of genetics, biostatistics, and machine learning to discover and characterize disease associated genetic variation. Our interests span both germline and somatic forms of genetic variation, and integrative analyses thereof. In more detail, our interests span two primary axes:
1) Discovery of the germline determinants of somatic mosaicism. Previous and ongoing work leverages biobank scale whole-genome sequencing (WGS) of blood to detect pre-malignant clonal expansions and to discover their germline determinants and phenotypic correlates. We are particularly interested the germline determinants of clonal expansions of somatic point mutations in blood, spanning both leukemogenic point mutations as well as relatively uncharacterized recurrent non-coding point mutations.
2) Characterization of the trans-regulatory cascade of disease-associated regulatory variation discovered by GWAS. We are particularly enthusiastic about high-throughput CRISPR perturbation approaches paired with bespoke statistical methods for computationally inferring gene regulatory networks. Our perspective is that these gene regulatory networks offer rich mechanistic insight into otherwise opaque GWAS loci.

Our lab furthers this mission though bespoke computational methods development and application. Our model has been to partner closely with experimentalists to develop statistical approaches that reflect deep biological and experimental intuition. We ultimately aspire to mitigate common disease burden through our discovery and characterization of novel therapeutic targets.

Read more about our work at weinstocklab.org

Academic Appointment

  • Assistant Professor, Human Genetics, Emory University

Education

Degrees

  • PhD Biostatistics from University of Michigan–Ann Arbor

Research

Publications

  • Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk.
    Nat Genet Volume: 57 Page(s): 548 - 562
    03/01/2025 Authors: Choi SH; Jurgens SJ; Xiao L; Hill MC; Haggerty CM; Sveinbjrnsson G; Morrill VN; Marston NA; Weng L-C; Pirruccello JP
  • Sparse matrix factorization robust to sample sharing across GWAS reveals interpretable genetic components.

    11/27/2024 Authors: Omdahl AR; Weinstock JS; Keener R; Chhetri SB; Arvanitis M; Battle A
  • Human Plasma Proteomic Profile of Clonal Hematopoiesis.
    bioRxiv
    10/31/2024 Authors: Yu Z; Vromman A; Nguyen NQH; Schuermans A; Rentz T; Vellarikkal SK; Uddin MM; Niroula A; Griffin G; Honigberg MC
  • A systematic comparison of computational methods for expression forecasting.
    bioRxiv
    10/01/2024 Authors: Kernfeld E; Yang Y; Weinstock J; Battle A; Cahan P
  • The Genetic Determinants and Genomic Consequences of Non-Leukemogenic Somatic Point Mutations.

    08/26/2024 Authors: Weinstock JS; Chaudhry SA; Ioannou M; Viskadourou M; Reventun P; Jakubek YA; Liggett LA; Laurie C; Broome JG; Khan A
  • Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate.
    Nat Aging Volume: 4 Page(s): 1043 - 1052
    08/01/2024 Authors: Mack TM; Raddatz MA; Pershad Y; Nachun DC; Taylor KD; Guo X; Shuldiner AR; O'Connell JR; Kenny EE; Loos RJF
  • Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes.
    Nat Commun Volume: 15 Page(s): 4417
    05/24/2024 Authors: Keener R; Chhetri SB; Connelly CJ; Taub MA; Conomos MP; Weinstock J; Ni B; Strober B; Aslibekyan S; Auer PL
  • Determinants of mosaic chromosomal alteration fitness.
    Nat Commun Volume: 15 Page(s): 3800
    05/07/2024 Authors: Pershad Y; Mack T; Poisner H; Jakubek YA; Stilp AM; Mitchell BD; Lewis JP; Boerwinkle E; Loos RJF; Chami N
  • Determinants of mosaic chromosomal alteration fitness.
    medRxiv
    10/21/2023 Authors: Pershad Y; Mack T; Poisner H; Jakubek YA; Stilp AM; Mitchell BD; Lewis JP; Boerwinkle E; Loos RJ; Chami N
  • Author Correction: Clonal haematopoiesis and risk of chronic liver disease.
    Nature Volume: 619 Page(s): E47
    07/01/2023 Authors: Wong WJ; Emdin C; Bick AG; Zekavat SM; Niroula A; Pirruccello JP; Dichtel L; Griffin G; Uddin MM; Gibson CJ
  • Clonal hematopoiesis is associated with protection from Alzheimer's disease.
    Nat Med Volume: 29 Page(s): 1662 - 1670
    07/01/2023 Authors: Bouzid H; Belk JA; Jan M; Qi Y; Sarnowski C; Wirth S; Ma L; Chrostek MR; Ahmad H; Nachun D
  • A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic data sets.
    Blood Volume: 141 Page(s): 2214 - 2223
    05/04/2023 Authors: Vlasschaert C; Mack T; Heimlich JB; Niroula A; Uddin MM; Weinstock J; Sharber B; Silver AJ; Xu Y; Savona M
  • The genetic determinants of recurrent somatic mutations in 43,693 blood genomes.
    Sci Adv Volume: 9 Page(s): eabm4945
    04/28/2023 Authors: Weinstock JS; Laurie CA; Broome JG; Taylor KD; Guo X; Shuldiner AR; O'Connell JR; Lewis JP; Boerwinkle E; Barnes KC
  • Clonal haematopoiesis and risk of chronic liver disease.
    Nature Volume: 616 Page(s): 747 - 754
    04/01/2023 Authors: Wong WJ; Emdin C; Bick AG; Zekavat SM; Niroula A; Pirruccello JP; Dichtel L; Griffin G; Uddin MM; Gibson CJ
  • Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.
    Nature Volume: 616 Page(s): 755 - 763
    04/01/2023 Authors: Weinstock JS; Gopakumar J; Burugula BB; Uddin MM; Jahn N; Belk JA; Bouzid H; Daniel B; Miao Z; Ly N
  • Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease.
    Nat Commun Volume: 13 Page(s): 5350
    09/12/2022 Authors: Uddin MDM; Nguyen NQH; Yu B; Brody JA; Pampana A; Nakao T; Fornage M; Bressler J; Sotoodehnia N; Weinstock JS
  • Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential.
    Sci Adv Volume: 8 Page(s): eabl6579
    04/08/2022 Authors: Nakao T; Bick AG; Taub MA; Zekavat SM; Uddin MM; Niroula A; Carty CL; Lane J; Honigberg MC; Weinstock JS
  • Clonal hematopoiesis in sickle cell disease.
    J Clin Invest Volume: 132
    02/15/2022 Authors: Liggett LA; Cato LD; Weinstock JS; Zhang Y; Nouraie SM; Gladwin MT; Garrett ME; Ashley-Koch A; Telen MJ; Custer B
  • Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed.
    Cell Genom Volume: 2
    01/12/2022 Authors: Taub MA; Conomos MP; Keener R; Iyer KR; Weinstock JS; Yanek LR; Lane J; Miller-Fleming TW; Brody JA; Raffield LM
  • Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer.
    Nat Commun Volume: 12 Page(s): 7354
    12/16/2021 Authors: Zhou W; Brumpton B; Kabil O; Gudmundsson J; Thorleifsson G; Weinstock J; Zawistowski M; Nielsen JB; Chaker L; Medici M
  • ZBTB33 is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing.
    Blood Cancer Discov Volume: 2 Page(s): 500 - 517
    09/01/2021 Authors: Beauchamp EM; Leventhal M; Bernard E; Hoppe ER; Todisco G; Creignou M; Gall A; Castellano CA; McConkey M; Tarun A
  • Clonal hematopoiesis associated with epigenetic aging and clinical outcomes.
    Aging Cell Volume: 20 Page(s): e13366
    06/01/2021 Authors: Nachun D; Lu AT; Bick AG; Natarajan P; Weinstock J; Szeto MD; Kathiresan S; Abecasis G; Taylor KD; Guo X
  • Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
    Nature Volume: 591 Page(s): E27
    03/01/2021 Authors: Bick AG; Weinstock JS; Nandakumar SK; Fulco CP; Bao EL; Zekavat SM; Szeto MD; Liao X; Leventhal MJ; Nasser J
  • LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks.
    PLoS Genet Volume: 16 Page(s): e1009077
    11/01/2020 Authors: Goldstein JA; Weinstock JS; Bastarache LA; Larach DB; Fritsche LG; Schmidt EM; Brummett CM; Kheterpal S; Abecasis GR; Denny JC
  • Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
    Nature Volume: 586 Page(s): 763 - 768
    10/01/2020 Authors: Bick AG; Weinstock JS; Nandakumar SK; Fulco CP; Bao EL; Zekavat SM; Szeto MD; Liao X; Leventhal MJ; Nasser J
  • GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.
    Nat Commun Volume: 11 Page(s): 3981
    08/07/2020 Authors: Zhou W; Brumpton B; Kabil O; Gudmundsson J; Thorleifsson G; Weinstock J; Zawistowski M; Nielsen JB; Chaker L; Medici M
  • Estimation of DNA contamination and its sources in genotyped samples.
    Genet Epidemiol Volume: 43 Page(s): 980 - 995
    12/01/2019 Authors: Zajac GJM; Fritsche LG; Weinstock JS; Dagenais SL; Lyons RH; Brummett CM; Abecasis GR
  • Exome-wide association study of plasma lipids in >300,000 individuals.
    Nat Genet Volume: 49 Page(s): 1758 - 1766
    12/01/2017 Authors: Liu DJ; Peloso GM; Yu H; Butterworth AS; Wang X; Mahajan A; Saleheen D; Emdin C; Alam D; Alves AC
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