Nicole Soranzo
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Explore the profile of Nicole Soranzo including associated specialties, affiliations and a list of published articles.
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234
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38849
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Recent Articles
1.
Tokolyi A, Persyn E, Nath A, Burnham K, Marten J, Vanderstichele T, et al.
Nat Genet
. 2025 Mar;
57(3):616-625.
PMID: 40038547
The biological mechanisms through which most nonprotein-coding genetic variants affect disease risk are unknown. To investigate gene-regulatory mechanisms, we mapped blood gene expression and splicing quantitative trait loci (QTLs) through...
2.
Garrison E, Guarracino A, Heumos S, Villani F, Bao Z, Tattini L, et al.
Nat Methods
. 2024 Oct;
21(11):2008-2012.
PMID: 39433878
Pangenome graphs can represent all variation between multiple reference genomes, but current approaches to build them exclude complex sequences or are based upon a single reference. In response, we developed...
3.
Bolognini D, Halgren A, Lou R, Raveane A, Rocha J, Guarracino A, et al.
Nature
. 2024 Sep;
634(8034):617-625.
PMID: 39232174
The adoption of agriculture triggered a rapid shift towards starch-rich diets in human populations. Amylase genes facilitate starch digestion, and increased amylase copy number has been observed in some modern...
4.
Vanderstichele T, Burnham K, de Klein N, Tardaguila M, Howell B, Walter K, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1524-1543.
PMID: 39053458
Gene misexpression is the aberrant transcription of a gene in a context where it is usually inactive. Despite its known pathological consequences in specific rare diseases, we have a limited...
5.
Burnham K, Milind N, Lee W, Kwok A, Cano-Gamez K, Mi Y, et al.
Cell Genom
. 2024 Jun;
4(7):100587.
PMID: 38897207
Sepsis is a clinical syndrome of life-threatening organ dysfunction caused by a dysregulated response to infection, for which disease heterogeneity is a major obstacle to developing targeted treatments. We have...
6.
Schormair B, Zhao C, Bell S, Didriksen M, Nawaz M, Schandra N, et al.
Nat Genet
. 2024 Jun;
56(6):1090-1099.
PMID: 38839884
Restless legs syndrome (RLS) affects up to 10% of older adults. Their healthcare is impeded by delayed diagnosis and insufficient treatment. To advance disease prediction and find new entry points...
7.
Bolognini D, Halgren A, Lou R, Raveane A, Rocha J, Guarracino A, et al.
bioRxiv
. 2024 Feb;
PMID: 38370750
The adoption of agriculture, first documented ~12,000 years ago in the Fertile Crescent, triggered a rapid shift toward starch-rich diets in human populations. Amylase genes facilitate starch digestion and increased...
8.
Guo J, Walter K, Quiros P, Gu M, Baxter E, Danesh J, et al.
Nat Genet
. 2024 Jan;
56(2):273-280.
PMID: 38233595
Myeloproliferative neoplasms (MPNs) are chronic cancers characterized by overproduction of mature blood cells. Their causative somatic mutations, for example, JAK2, are common in the population, yet only a minority of...
9.
Akbari P, Vuckovic D, Stefanucci L, Jiang T, Kundu K, Kreuzhuber R, et al.
Nat Commun
. 2023 Aug;
14(1):5023.
PMID: 37596262
Blood cells contain functionally important intracellular structures, such as granules, critical to immunity and thrombosis. Quantitative variation in these structures has not been subjected previously to large-scale genetic analysis. We...
10.
Kang J, Raveane A, Nathan A, Soranzo N, Raychaudhuri S
Annu Rev Genomics Hum Genet
. 2023 May;
24:277-303.
PMID: 37196361
Recent advancements in single-cell technologies have enabled expression quantitative trait locus (eQTL) analysis across many individuals at single-cell resolution. Compared with bulk RNA sequencing, which averages gene expression across cell...