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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Analytical validation of a SARS-CoV-2 whole genome sequencing method by amplicon-based NGS

Authors: Rosenthal SH, Kagan RH, Gerasimova A, Liu Y, Hua M, Anderson B, Catanese J, Lacbawan F, Owen R
Event: 2020 Association for Molecular Pathology (AMP2020) Annual Meeting & Expo. Virtual [in-person conference canceled], November 16 - 20, 2020

Specialties: COVID-19, Genetics, Infectious Disease

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Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project

Authors: Prior TW, Bayrak-Toydemir P, Mao R, Metcalf JD, Muralidharan K, Qureshi S, Requesens D, Shen J, Pratt V, Lynnes TC, Otsubo A, Vetrini F, Kalman L
Event: 2020 Association for Molecular Pathology (AMP2020) Annual Meeting & Expo. Virtual [in-person conference canceled], November 16 - 20, 2020

Specialties: Genetics, Neurology

Detection of actionable alterations in breast and ovarian tumor tissues by a 50-gene NGS panel testing

Authors: Rosenthal SH, Ma C, Acab A, Grupe A, Van Ness M, Sugganth D, Racke F, Lacbawan F
Event: 2020 Association for Molecular Pathology (AMP2020) Annual Meeting & Expo. Virtual [in-person conference canceled], November 16 - 20, 2020

Specialties: Genetics, Oncology

A Retrospective Study of Product of Conception with more than 40,000 Specimens in 27 years at a National Cytogenetic Reference Laboratory

Authors: Meng H, Mowrey P, Schonberg S
Event: 2020 Association for Molecular Pathology (AMP2020) Annual Meeting & Expo. Virtual [in-person conference canceled], November 16 - 20, 2020

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

Incidental findings involving cancer susceptibility genes detected by germline chromosomal microarray

Quest Diagnostics Authors: Boyar, F, Fesko, Y, Hodko, D, Mahon, L, Weltmer, E
Authors: Weltmer EC, Boyar FZ, Hodko D, Mahon LW, Fesko YA
Event: ASHG 2020: American Society of Human Genetics Annual Meeting. Virtual [in-person conference canceled], October 27 - 31, 2020

Specialties: Genetics, Oncology

A Blat variant caller that uses breakpoint detection to find MSH2 inversions in Illumina short read sequences

Quest Diagnostics Authors: Bhattacharya, A, Chong, HK, Elzinga, C, Gerasimova, A, Grupe, A, Lacbawan, F, Moler, E
Authors: Bhattacharya A, Angeloni T, Grupe A, Goos-Root D, Gerasimova A, Kazmierkiewicz K, Chong H, Smolgovsky A, Owen R, Elzinga C, Chen R, Moler E, Lacbawan F
Event: ASHG 2020: American Society of Human Genetics Annual Meeting. Virtual [in-person conference canceled], October 27 - 31, 2020

Specialties: Genetics, Oncology

A bioinformatics pipeline for selecting and detecting hotspot variants in a next generation sequencing panel

Quest Diagnostics Authors: Bhattacharya, A, Chong, HK, Elzinga, C, Gerasimova, A, Grupe, A, Lacbawan, F, Lapierre, JL, Moler, E, Nakles-Taylor, R, Owen, R, Smolgovsky, A
Authors: Bhattacharya A, Grupe A, Rosenthal SH, Gerasimova A, Kazmierkiewicz K, Chong H, Lapierre J, Nakles R, Smolgovsky A, Owen R, Elzinga C, Chen R, Moler E, Lacbawan F
Event: ASHG 2020: American Society of Human Genetics Annual Meeting. Virtual [in-person conference canceled], October 27 - 31, 2020

Specialties: Genetics

Frequencies and patterns of deleterious variants in the largest cohort of patients referred for diagnostic MECP2 genotyping

Quest Diagnostics Authors: Buller-Burckle, A, Daniel, S, Lacbawan, F, Owen, R
Authors: Wan M, Buller-Burckle A, Quan F, Owen R, Ilagan BJ, Ghaffari G, Zhang Q, Oddoux C, Cai G, Vo T,Ito M, Wang G, Tsao D, Nery CR, Rion JR, Chen R, Zhang K, Daniel S, Lacbawan FL
Event: ASHG 2020: American Society of Human Genetics Annual Meeting. Virtual [in-person conference canceled], October 27 - 31, 2020

Specialties: Genetics, Neurology

The Dual Laboratory Faces of Porphyria Cutanea Tarda

Quest Diagnostics Authors: Guerrero, RB, Lacbawan, F, Tanpaiboon, P
Authors: Salazar D, Sharma R, Guerrero RB, Kucera C, Epstein BK, Taylor JC, Lobo R, Lacbawan FL, Tanpaiboon P
Event: ASHG 2020: American Society of Human Genetics Annual Meeting. Virtual [in-person conference canceled], October 27 - 31, 2020

Specialties: Genetics, Neurology

Educating the Genomics Community about the Updated ACMG/ClinGen Technical Standards for Constitutional Copy Number Variant Classification

Authors: Riggs ER, Andersen EF, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL
Event: ASHG 2020: American Society of Human Genetics Annual Meeting. Virtual [in-person conference canceled], October 27 - 31, 2020

Specialties: Genetics