Icahn School of Medicine at Mount Sinai · GeneticsGenomic Insights Lab
Ernest Turro · New York, New York
Research Focus
Dr. Ernest Turro's lab focuses on understanding the genetic causes behind rare diseases using advanced genomic techniques. The lab specifically combines whole-genome sequencing with RNA sequencing of different blood cell types to enhance the diagnosis of rare disease patients. Through their work, they aim to uncover novel genetic variants that contribute to these diseases and improve precision medicine approaches.
whole-genome sequencingRNA sequencingrare diseasesgenetic etiologyblood cell genomics
Research Aims
5AIM 01Develop a Bayesian method to identify rare disease-causing variants in regulatory elements.
AIM 02Apply techniques to identify pathogenic changes in transcript sequences.
AIM 03Estimate allelic imbalances at heterozygous sites using patient data.
AIM 04Generate histone modification data to explore new enhancer classes.
AIM 05Investigate the contributions of different blood cell types to disease mechanisms.
Skills the Lab Values
Bayesian analysisRNA sequencingcell culturegenomic data analysisbioinformatics tools
Output against the department
Publications145bottom 47% of dept.136th of 259
this lab
most publishedleast published
Citations9.2kbottom 47% of dept.136th of 259
this lab
most citedleast cited
Career totals from OpenAlex, compared against labs that share a department. A department spans everything from one paper to tens of thousands, so bar heights are on a log scale — otherwise the largest lab would flatten every other bar to a line.