Clinical and molecular characterization of COVID-19 hospitalized patients

PloS One
E. BenettiF. Mari

Abstract

Clinical and molecular characterization by Whole Exome Sequencing (WES) is reported in 35 COVID-19 patients attending the University Hospital in Siena, Italy, from April 7 to May 7, 2020. Eighty percent of patients required respiratory assistance, half of them being on mechanical ventilation. Fiftyone percent had hepatic involvement and hyposmia was ascertained in 3 patients. Searching for common genes by collapsing methods against 150 WES of controls of the Italian population failed to give straightforward statistically significant results with the exception of two genes. This result is not unexpected since we are facing the most challenging common disorder triggered by environmental factors with a strong underlying heritability (50%). The lesson learned from Autism-Spectrum-Disorders prompted us to re-analyse the cohort treating each patient as an independent case, following a Mendelian-like model. We identified for each patient an average of 2.5 pathogenic mutations involved in virus infection susceptibility and pinpointing to one or more rare disorder(s). To our knowledge, this is the first report on WES and COVID-19. Our results suggest a combined model for COVID-19 susceptibility with a number of common susceptibility gen...Continue Reading

References

Mar 8, 2018·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Chi-Ping ChanDong-Yan Jin
May 28, 2019·Advances in Clinical Chemistry·Yan ZhangRongfang Wang

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Citations

Feb 7, 2021·Cytokine·L BergantiniF Dotta
Feb 8, 2021·Mayo Clinic Proceedings·Naveen L PereiraSharon Cresci
Mar 2, 2021·EBioMedicine·Margherita BaldassarriUNKNOWN Spanish Covid HGE, GEN-COVID Multicenter Study
Apr 4, 2021·Journal of Personalized Medicine·Carles PerpiñanTeresa Auguet
Apr 4, 2021·International Journal of Molecular Sciences·Fanny PojeroAnna Aiello
Jul 3, 2021·Journal of Personalized Medicine·Margherita Baldassarri On Behalf Of The Gen-Covid Multicenter Study

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Methods Mentioned

BETA
exome sequencing
X-Rays
X-Ray

Software Mentioned

CADD
ApplyVQSR
ClinVar
VariantRecalibrator
BWA
HaplotypeCaller
Phred
ANNOVAR
GEN
GenomicDBImport

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