Conference Presentations by Medical Specialty - Genetics

Below is a listing of recent posters and presentations by Quest Diagnostics medical and scientific staff.

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A straightforward method to improve variant calling sensitivity for a MSH2 splicing mutation (c.942+3A>T) using GATK tools

Quest Diagnostics Authors: Buller-Burckle, A, Gerasimova, A, Grupe, A, Moler, E, Rosenthal, SH, Smolgovsky, A
Authors: Gerasimova A, Rosenthal SH, Wolfson D, Smolgovsky A, Grupe A, Buller-Burckle AGerasimova A, Rosenthal SH, Wolfson D, ASmolgovsky A, Grupe A, Buller-Burckle A, Edward Moler E, Elzinga C, Edward Moler E, Elzinga C
Event: ASHG 2018: The American Society of Human Genetics Annual Meeting. San Diego, October 16-20, 2018

Specialties: Genetics, Oncology

Re-computing NGS read depth statistics to standardize QC of disparate variant call outputs for clinical genomics applications

Quest Diagnostics Authors: Bhattacharya, A, Gerasimova, A, Moler, E, Nguyen, Q
Authors: Bhattacharya A, Gerasimova A, Nguyen Q, Elzinga C, Moler E
Event: ASHG 2018: The American Society of Human Genetics Annual Meeting. San Diego, October 16-20, 2018

Specialties: Genetics

Scaling the Resolution of Sequence Variant Classification Discrepancies in ClinVar

Authors: Harrison SM, Dolinksy JS, Chen W, Coffey A, Collins CD, Das S, Deignan JL, Garber KB, Garcia J, Jarinova O, Karbassi I, Knight Johnson AE, Koskenvuo JW, Lee H, Mao R, Maver A, Mar-Heyming R, McFaddin A, Moyer K, Nagan N, Rentas S, Santani AB, Saunders C, Seppälä EH, Shirts B, Tidwell T, Topper S, Vincent LM, Vinette K and Rehm HL
Event: ASHG 2018: The American Society of Human Genetics Annual Meeting. San Diego, October 16-20, 2018

Specialties: Genetics

Evaluating Dosage Sensitivity of Genes Associated with Neurodevelopmental Disorders

Quest Diagnostics Authors: Kantarci, S
Authors: Riggs ER, Barry C-A,Ahn JW, Brandt T, Cano O, Cao Y, Goodenberger M, Kantarci S, Khan W, Li G, Ngo C, Risheg H, Runke C, Su M, Shen Y, Aradhya S, Thorland E, and Martin CL
Event: ASHG 2018: The American Society of Human Genetics Annual Meeting. San Diego, October 16-20, 2018

Specialties: Genetics, Neurology

Detection of Alpha-thalassemia common large deletions by Next Generation Sequencing

Quest Diagnostics Authors: Lacbawan, F, Owen, R
Authors: Rosenthal SH, Gerasimova A, Owen R, Catanese J, Buller-Burckle A, and Lacbawan F
Event: ASHG 2018: The American Society of Human Genetics Annual Meeting. San Diego, October 16-20, 2018

Specialties: Genetics, Women's Health/OB/GYN

Diagnosis of Fatty Acid Oxidation Disorders: Experience at Quest Diagnostics Nichols Institute Biochemical Genetics Laboratory.

Quest Diagnostics Authors: Lacbawan, F, Tanpaiboon, P
Authors: Sharma R, Tanpaiboon P, Salazar D, Bonilla-Guerrero R, Lacbawan FL, Asaikar SM
Event: INFORM Symposium 2018: International Network for Fatty Acid Oxidation Research and Management. Athens, Greece, , September 2-3, 2018

Specialties: Genetics, Neurology

Polymorphisms of LEP, LEPR, DRD2, HTR2A and HTR2C genes and risperidone- or clozapine-induced hyperglycemia

Quest Diagnostics Authors: Kroll, MH
Authors: Kroll, M
Event: AACC 2018: Am Assoc for Clin Chemistry. Chicago, IL, July 29 - Aug 2

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Genetics, Neurology

Clinical laboratory stewardship at a large commercial laboratory: Flexing genetic assistant skills

Quest Diagnostics Authors: Franklin, CR
Authors: Guy C, Wilson K, Franklin C
Event: PLUGS Summit 2018. Seattle, WA, June 13th - 15th, 2018

Specialties: Genetics, Laboratory

Leveraging gnomAD sub-population frequency data in variant interpretation

Quest Diagnostics Authors: Hiller, E
Authors: Hiller E, Maston G, Bogenschutz J, Farinas A, Lapierre J, Medeiros K, Nakles-Taylor R, Raval F, Nery C, Karbassi I, Lacbawan F
Event: Human Genetic Variation and Disease Conference 2018. Biddeford, ME, June 10 - 15, 2018

Specialties: Genetics

Detection and Confirmation of Two Jacobsen Syndrome Microdeletions by Prenatal Cell-free DNA Screening

Quest Diagnostics Authors: Blazejewski, L, Lacbawan, F, Owen, R
Authors: Epstein BK., Blazejewski LM., Owen R., Anderson BP., Zhang K., Chen N., Ilagan BJ., Lacbawan FL
Event: ACMG 2018: Annual Clinical Genetics Meeting. Charlotte, NC, April 10-14, 2018

Specialties: Genetics, Women's Health/OB/GYN