User profiles for C. Igartua
 | Catherine IgartuaHuman Genetics PhD Student, University of Chicago Verified email at uchicago.edu Cited by 1898 |
[HTML][HTML] A decade of research on the 17q12-21 asthma locus: piecing together the puzzle
…, KM Magnaye, C Stanhope, C Igartua… - Journal of Allergy and …, 2018 - Elsevier
… C allele, and the rs12936231-C allele in ZPBP2 that destroys a CTCF motif is associated
with increased expression of ORMDL3. Because of LD, 2 haplotypes corresponding to high …
with increased expression of ORMDL3. Because of LD, 2 haplotypes corresponding to high …
[HTML][HTML] Innate immunity and asthma risk in Amish and Hutterite farm children
Background The Amish and Hutterites are US agricultural populations whose lifestyles are
remarkably similar in many respects but whose farming practices, in particular, are distinct; …
remarkably similar in many respects but whose farming practices, in particular, are distinct; …
[PDF][PDF] A pan-cancer organoid platform for precision medicine
Patient-derived tumor organoids (TOs) are emerging as high-fidelity models to study cancer
biology and develop novel precision medicine therapeutics. However, utilizing TOs for …
biology and develop novel precision medicine therapeutics. However, utilizing TOs for …
Integrated genomic profiling expands clinical options for patients with cancer
Genomic analysis of paired tumor–normal samples and clinical data can be used to match
patients to cancer therapies or clinical trials. We analyzed 500 patient samples across diverse …
patients to cancer therapies or clinical trials. We analyzed 500 patient samples across diverse …
[HTML][HTML] Associations of autozygosity with a broad range of human phenotypes
…, E Hofer, A Huerta-Chagoya, C Igartua… - Nature …, 2019 - nature.com
In many species, the offspring of related parents suffer reduced reproductive success, a
phenomenon known as inbreeding depression. In humans, the importance of this effect has …
phenomenon known as inbreeding depression. In humans, the importance of this effect has …
[HTML][HTML] Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma
Common variants at many loci have been robustly associated with asthma but explain little
of the overall genetic risk. Here we investigate the role of rare (<1%) and low-frequency (1–5…
of the overall genetic risk. Here we investigate the role of rare (<1%) and low-frequency (1–5…
[HTML][HTML] Host genetic variation in mucosal immunity pathways influences the upper airway microbiome
… To determine if the association of increased Dermacoccus RA with the rs28362459-C allele
in FUT3 is independent of the association with the rs117042385-C allele upstream of TINCR…
in FUT3 is independent of the association with the rs117042385-C allele upstream of TINCR…
Genomic fusions in pigmented spindle cell nevus of reed
Recent molecular studies of spitzoid neoplasms have identified mutually exclusive kinase
fusions involving ROS1, ALK, RET, BRAF, NTRK1, MET, and NTRK3 as early initiating …
fusions involving ROS1, ALK, RET, BRAF, NTRK1, MET, and NTRK3 as early initiating …
Genome‐wide association and multi‐omics studies identify MGMT as a novel risk gene for Alzheimer's disease among women
… their target genes, we performed pcHi-C using data obtained from hypothalamic neurons …
pcHi-C library preparation and data processing are presented in the supporting information. …
pcHi-C library preparation and data processing are presented in the supporting information. …
[HTML][HTML] Validation of genomic and transcriptomic models of homologous recombination deficiency in a real-world pan-cancer cohort
…, TA Chandra, JR Dry, N Beaubier, C Igartua… - BMC cancer, 2022 - Springer
… The optimal regularization strength (where the parameter C is the inverse of the regularization
strength), positive class weighting (to account for the overrepresentation of WT cases in …
strength), positive class weighting (to account for the overrepresentation of WT cases in …