Jonathan Marchini
Overview
Explore the profile of Jonathan Marchini including associated specialties, affiliations and a list of published articles.
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Articles
93
Citations
28548
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Recent Articles
1.
Hu S, Ferreira L, Shi S, Hellenthal G, Marchini J, Lawson D, et al.
Nat Genet
. 2025 Feb;
57(2):379-389.
PMID: 39901012
Understanding genetic differences between populations is essential for avoiding confounding in genome-wide association studies and improving polygenic score (PGS) portability. We developed a statistical pipeline to infer fine-scale Ancestry Components...
2.
Kessler M, Damask A, OKeeffe S, Banerjee N, Li D, Watanabe K, et al.
Nature
. 2025 Jan;
637(8047):E27.
PMID: 39779868
No abstract available.
3.
Sun K, Bai X, Chen S, Bao S, Zhang C, Kapoor M, et al.
Nature
. 2025 Jan;
637(8047):E26.
PMID: 39779867
No abstract available.
4.
Ziyatdinov A, Mbatchou J, Marcketta A, Backman J, Gaynor S, Zou Y, et al.
Am J Hum Genet
. 2024 Oct;
111(10):2139-2149.
PMID: 39366334
Gene-based burden tests are a popular and powerful approach for analysis of exome-wide association studies. These approaches combine sets of variants within a gene into a single burden score that...
5.
Gaynor S, Joseph T, Bai X, Zou Y, Boutkov B, Maxwell E, et al.
Nat Genet
. 2024 Sep;
56(11):2345-2351.
PMID: 39322778
Whole-genome sequencing (WGS), whole-exome sequencing (WES) and array genotyping with imputation (IMP) are common strategies for assessing genetic variation and its association with medically relevant phenotypes. To date, there has...
6.
Rodriguez-Flores J, Khalid S, Parikshak N, Rasheed A, Ye B, Kapoor M, et al.
Nat Commun
. 2024 Sep;
15(1):8029.
PMID: 39271666
The genetic factors of stroke in South Asians are largely unexplored. Exome-wide sequencing and association analysis (ExWAS) in 75 K Pakistanis identified NM_000435.3(NOTCH3):c.3691 C > T, encoding the missense amino...
7.
Shi S, Rubinacci S, Hu S, Moutsianas L, Stuckey A, Need A, et al.
Nat Genet
. 2024 Aug;
56(9):1800-1803.
PMID: 39134668
We built a reference panel with 342 million autosomal variants using 78,195 individuals from the Genomics England (GEL) dataset, achieving a phasing switch error rate of 0.18% for European samples...
8.
Kosmicki J, Marcketta A, Sharma D, Di Gioia S, Batista S, Yang X, et al.
Nat Genet
. 2024 Aug;
56(8):1592-1596.
PMID: 39103650
Coronavirus disease 2019 (COVID-19) and influenza are respiratory illnesses caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and influenza viruses, respectively. Both diseases share symptoms and clinical risk...
9.
Sun K, Bai X, Chen S, Bao S, Zhang C, Kapoor M, et al.
Nature
. 2024 May;
631(8021):583-592.
PMID: 38768635
Rare coding variants that substantially affect function provide insights into the biology of a gene. However, ascertaining the frequency of such variants requires large sample sizes. Here we present a...
10.
Ziyatdinov A, Torres J, Alegre-Diaz J, Backman J, Mbatchou J, Turner M, et al.
Nature
. 2024 Feb;
626(8001):E18.
PMID: 38332034
No abstract available.