Capra JA - Search Results

1

Integration of Protein Structure and Population-Scale DNA Sequence Data for Disease Gene Discovery and Variant Interpretation.

Li B, Jin B, Capra JA, Bush WS. Li B, et al. Among authors: capra ja. Annu Rev Biomed Data Sci. 2022 Aug 10;5:141-161. doi: 10.1146/annurev-biodatasci-122220-112147. Epub 2022 May 4. Annu Rev Biomed Data Sci. 2022. PMID: 35508071 Review.

2

The phenotypic legacy of admixture between modern humans and Neandertals.

Simonti CN, Vernot B, Bastarache L, Bottinger E, Carrell DS, Chisholm RL, Crosslin DR, Hebbring SJ, Jarvik GP, Kullo IJ, Li R, Pathak J, Ritchie MD, Roden DM, Verma SS, Tromp G, Prato JD, Bush WS, Akey JM, Denny JC, Capra JA. Simonti CN, et al. Among authors: capra ja. Science. 2016 Feb 12;351(6274):737-41. doi: 10.1126/science.aad2149. Science. 2016. PMID: 26912863 Free PMC article.

3

Are Interactions between cis-Regulatory Variants Evidence for Biological Epistasis or Statistical Artifacts?

Fish AE, Capra JA, Bush WS. Fish AE, et al. Among authors: capra ja. Am J Hum Genet. 2016 Oct 6;99(4):817-830. doi: 10.1016/j.ajhg.2016.07.022. Epub 2016 Sep 15. Am J Hum Genet. 2016. PMID: 27640306 Free PMC article.

4

Local ancestry transitions modify snp-trait associations.

Fish AE, Crawford DC, Capra JA, Bush WS. Fish AE, et al. Among authors: capra ja. Pac Symp Biocomput. 2018;23:424-435. Pac Symp Biocomput. 2018. PMID: 29218902 Free PMC article.

5

Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia.

Sivley RM, Sheehan JH, Kropski JA, Cogan J, Blackwell TS, Phillips JA, Bush WS, Meiler J, Capra JA. Sivley RM, et al. Among authors: capra ja. BMC Bioinformatics. 2018 Jan 23;19(1):18. doi: 10.1186/s12859-018-2010-z. BMC Bioinformatics. 2018. PMID: 29361909 Free PMC article.

6

Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures.

Sivley RM, Dou X, Meiler J, Bush WS, Capra JA. Sivley RM, et al. Among authors: capra ja. Am J Hum Genet. 2018 Mar 1;102(3):415-426. doi: 10.1016/j.ajhg.2018.01.017. Epub 2018 Feb 15. Am J Hum Genet. 2018. PMID: 29455857 Free PMC article.

7

High-Throughput Reclassification of SCN5A Variants.

Glazer AM, Wada Y, Li B, Muhammad A, Kalash OR, O'Neill MJ, Shields T, Hall L, Short L, Blair MA, Kroncke BM, Capra JA, Roden DM. Glazer AM, et al. Among authors: capra ja. Am J Hum Genet. 2020 Jul 2;107(1):111-123. doi: 10.1016/j.ajhg.2020.05.015. Epub 2020 Jun 12. Am J Hum Genet. 2020. PMID: 32533946 Free PMC article.

8

PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection.

Tang ZZ, Sliwoski GR, Chen G, Jin B, Bush WS, Li B, Capra JA. Tang ZZ, et al. Among authors: capra ja. Genome Biol. 2020 Aug 26;21(1):217. doi: 10.1186/s13059-020-02121-0. Genome Biol. 2020. PMID: 32847609 Free PMC article.

9

Predicting changes in protein thermodynamic stability upon point mutation with deep 3D convolutional neural networks.

Li B, Yang YT, Capra JA, Gerstein MB. Li B, et al. Among authors: capra ja. PLoS Comput Biol. 2020 Nov 30;16(11):e1008291. doi: 10.1371/journal.pcbi.1008291. eCollection 2020 Nov. PLoS Comput Biol. 2020. PMID: 33253214 Free PMC article.

10

The influence of evolutionary history on human health and disease.

Benton ML, Abraham A, LaBella AL, Abbot P, Rokas A, Capra JA. Benton ML, et al. Among authors: capra ja. Nat Rev Genet. 2021 May;22(5):269-283. doi: 10.1038/s41576-020-00305-9. Epub 2021 Jan 6. Nat Rev Genet. 2021. PMID: 33408383 Free PMC article. Review.

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