Research & Publications
Our laboratory develops new tools and genomic approaches for molecular screening and diagnostics and the study of disease pathogenesis. We couple experimental and computational techniques to fully integrate all steps of highly multiplexed molecular assays, which include nucleic acid extraction from small and challenging clinical samples (e.g., dried blood spots, plasma), targeted (multi-gene panels, exome, microarrays) and genome sequencing, detection of rare single nucleotide and copy number variants, and data interpretation in the context of clinical findings. We use laboratory automation to increase assay precision and speed, and work on implementing these techniques into rapid disease screening and diagnostics. Our lab is located in a highly translational setting next to the Yale DNA Diagnostic Laboratory. We work closely with the Yale Center for Genome Analysis (YCGA) and collaborate with clinical colleagues and researcher at Yale and other institutions. Please read here about our most recent projects.
We are interested in collaborations of all sorts including clinical medicine, genetics and genomics, biochemistry, technology development, chemical and electrical engineering, statistics and computational sciences. We seek highly motivated students and postdoctoral candidates to join a multi-disciplinary team of experimental and computational scientists in a highly translational setting at the Yale Genetics Department. Please feel free to contact firstname.lastname@example.org for open positions.
Extensive Research Description
Biotechnology; Cystic Fibrosis; DNA; DNA Virus Infections; Genetics, Population; Heart Defects, Congenital; Infant, Newborn, Diseases; Metabolism, Inborn Errors; Prenatal Diagnosis; Neonatal Screening; Genomics; Molecular Diagnostic Techniques; Mitochondrial Diseases; Proteomics; Microarray Analysis; High-Throughput Nucleotide Sequencing
- A multipurpose panel of microhaplotypes for caseworkKidd K, Pakstis A, Gandotra N, Scharfe C, Podini D. A multipurpose panel of microhaplotypes for casework Forensic Science International Genetics Supplement Series 2022, 8: 202-204. DOI: 10.1016/j.fsigss.2022.10.035.
- Empirical haplotype calling and probabilistic interpretation of microhaplotype profilesStandage D, Just R, Scharfe C, Gandotra N. Empirical haplotype calling and probabilistic interpretation of microhaplotype profiles Forensic Science International Genetics Supplement Series 2022, 8: 265-267. DOI: 10.1016/j.fsigss.2022.10.057.
- eP037 Timing of newborn blood collection alters screening performance for metabolic disordersPeng G, Tang Y, Gandotra N, Cowan T, Zhao H, Scharfe C. eP037 Timing of newborn blood collection alters screening performance for metabolic disorders Molecular Genetics And Metabolism 2021, 132: s26. DOI: 10.1016/s1096-7192(21)00124-4.
- Multiplex Detection of DNA Viruses in Transplant RecipientsTan S, Shen P, Lefterova M, Sahoo M, Odegaard J, Pinsky B, Scharfe C. Multiplex Detection of DNA Viruses in Transplant Recipients Open Forum Infectious Diseases 2017, 4: s724-s724. DOI: 10.1093/ofid/ofx163.1953.
- Characterizing the human mitochondrial proteome using a genome-wide functional linkage networkZarkoob H, Shen P, Enns G, Sabatti C, Scharfe C. Characterizing the human mitochondrial proteome using a genome-wide functional linkage network Mitochondrion 2015, 24: s26. DOI: 10.1016/j.mito.2015.07.076.
- Correction: The MITOP database – a one-stop shop for mitochondrial informationScharfe C, Zaccaria P, Mewes H, Meitinger T. Correction: The MITOP database – a one-stop shop for mitochondrial information Trends In Genetics 1999, 15: 82. DOI: 10.1016/s0168-9525(99)01703-5.
- The MITOP database—a one-stop shop for mitochondrial informationScharfe C. The MITOP database—a one-stop shop for mitochondrial information Trends In Genetics 1998, 14: 519. DOI: 10.1016/s0168-9525(98)01614-x.