Posters

ASHG 2018

Clinical impact and cost-effectiveness of a 176 condition expanded carrier screen

Kyle A. Beauchamp, Kenny K. Wong, Katie Johansen Taber, Gabriel Lazarin, Eric A. Evans, James D. Goldberg, Dale Muzzey

Deep recurrent neural networks for variant calling in 21-hydroxylase-deficient congenital adrenal hyperplasia

Adithya Ganesh, Sun Hae Hong, Dale Muzzey, Kevin R. Haas, Dave Peticolas, Kyle A. Beauchamp

Variant allele frequency discrepancies in population databases

K. Eerik Kaseniit, Caiqian Cropper, Domenic Previte, Dale Muzzey

Assessment of the utility of functional studies in variant classification

Ildiko Thibodeau, Eerik Kaseniit, Rebecca Mar-Heyming

Enhanced clinical copy number variant calling with sample-specific sensitivity

Sun Hae Hong, Greg Hogan, Piotr Kaleta, Jiani Li, Dale Muzzey, Kevin R. Haas

Clinical validity of expanded carrier screening: High concordance of inter-lab variant classifications

Dale Muzzey, Elizabeth Collins, K. Eerik Kaseniit, Christine Lo, Krista Moyer, Peter Kang

Clinical utility of expanded carrier screening

Katie Johansen Taber, Kyle Beauchamp, Gabriel Lazarin, Dale Muzzey, Aishwarya Arjunan, Jim Goldberg

Scaling variant interpretation for full-exon sequenced expanded carrier screening panels

Christine Lo, Eerik Kaseniit, Matthew Rasmussen, Dale Muzzey

High throughput counseling: a model for genetic testing results disclosure and patient management

Aishwarya Arjunan, Rotem Ben-Shachar, Jamie Kostialik, Gabriel Lazarin, Katherine Johansen Taber

ASRM 2018

Clinical utility of preconception expanded carrier screening

Katie Johansen Taber, Kyle Beauchamp, Gabriel Lazarin, Dale Muzzey, Aishwarya Arjunan, Jim Goldberg

Next-generation counseling: A model for carrier screening results disclosure and patient management

Aishwarya Arjunan, Rotem Ben-Shachar, Jamie Kostialik, Gabriel Lazarin, Katherine Johansen Taber

NPWH 2018

NIPS for patients with high BMI: evaluating the impact of whole genome sequencing

Carrie E. Haverty, Kevin M. D’Auria, Kevin R. Haas, H. Peter Kang, Eric A. Evans, Dale Muzzey

Next-generation counseling: A model for hereditary cancer genetic test results disclosure and counseling

Ashley Svenson, Kristin Price, Rotem Ben-Shachar, Beth Denne, Kaylene Ready, Gabriel A. Lazarin

Next-generation counseling: a model for genetic testing results disclosure and patient management

Aishwarya Arjunan, Rotem Ben-Shachar, Jamie Kostialik, Katherine Johansen Taber, Gabe Lazarin, Beth Denne, Dale Muzzey, Carrie Haverty

ISPD 2018

Next-generation counseling: A model for carrier screening results disclosure and patient management

Aishwarya Arjunan, Rotem Ben-Shachar, Jamie Kostialik, Gabriel Lazarin, Katherine Johansen Taber

NIPS for patients with high BMI: evaluating the impact of whole genome sequencing

Carrie E. Haverty, Kevin M. D’Auria, Kevin R. Haas, H. Peter Kang, Eric A. Evans, Gabriel A. Lazarin, Dale Muzzey

10th Philadelphia Prenatal Conference (2018)

Next-generation counseling: A model for non-invasive prenatal screening results disclosure and patient management

Shivani Nazareth, Colleen Schmitt, Aishwarya Arjunan, Jamie Kostialik, Dave Peticolas, Beth Denne MS CGC, Gabriel Lazarin, Carrie Haverty

2018 Northern California Genetics Exchange

What’s in a VUS rate? Simulated VUS calculations for hereditary cancer genes in a general population using population frequency data and ClinVar submissions

K. Eerik Kaseniit, Megan Judkins, Rebecca Mar-Heyming, H. Peter Kang, Eric A. Evans, Kaylene Ready, Dale Muzzey

Clinical impact and cost-effectiveness of a 176 condition expanded carrier screen

Kyle A. Beauchamp, Kenny K. Wong, Katie Johansen Taber,
Gabriel Lazarin, Eric A. Evans, James D. Goldberg, Dale Muzzey

BRCA 2018

Next-generation counseling: A model for hereditary cancer genetic test results disclosure and counseling

Kristin Price, Rotem Ben-Shachar, Beth Denne, Kaylene Ready, Gabriel A. Lazarin

WorldSymposium 2018

Reclassification of common variants of unknown significance in HEXA: implications for Tay-Sachs carrier screening

Elizabeth D Smith, Karen A Grinzaid, Melani Hardy, Laura Tiger, Krista Moyer, K. Eerik Kaseniit, Dale Muzzey, Alana Cecchi

SMFM 2018

NIPS for high BMI patients: Evaluating the impact of deep whole genome sequencing on sensitivity and residual risk

Carrie E. Haverty, Carlo G. Artieri, Kevin M. D’Auria, Kevin R. Haas, H. Peter Kang, Eric A. Evans, Dale Muzzey

Copy number variant calling on a 176-disease expanded carrier screening panel

Kyle A. Beauchamp, Peter Grauman, Gregory J. Hogan, Kevin R. Haas, Genevieve M. Gould, Kenny K. Wong, Gabriel Lazarin, Eric A. Evans, Dale Muzzey

ACMG 2018

What’s in a VUS rate? Simulated VUS calculations for hereditary cancer genes in a general population using population frequency data and ClinVar submissions

K. Eerik Kaseniit, Megan Judkins, Rebecca Mar-Heyming, H. Peter Kang, Eric A. Evans, Kaylene Ready, Dale Muzzey

A robust curation quality assurance program ensures high quality variant interpretation

Michael Hunter, Rebecca Mar-Heyming, Saurav Guha, Krista Moyer, Peter Kang, Kambiz Karimi

ASRM 2017

Copy Number Variant Calling on a 176 Condition Expanded Carrier Screening Panel Reveals Impact of HBB Deletions

Kyle A. Beauchamp, K. Eerik Kaseniit, Peter Grauman, Gregory J. Hogan, Kevin R. Haas, Genevieve M. Gould, Kenny K. Wong, Gabriel Lazarin, Eric A. Evans, Dale Muzzey

ASHG 2017

Sample-specific background correction leveraging vast historical patient cohort maximizes sensitivity of noninvasive prenatal screening

Dale Muzzey, Jeffrey Tratner, Kevin M. D’Auria, Kristjan E. Kaseniit, Dustin H. Hite, Gregory J. Hogan, Chuba B. Oyolu, Carrie Haverty, Kevin R. Haas

What’s in a VUS rate? Simulated VUS calculations for hereditary cancer genes in a general population using population frequency data and ClinVar submissions

K. Eerik Kaseniit, Megan Judkins, Rebecca Mar-Heyming, H. Peter Kang, Eric A. Evans, Kaylene Ready, Dale Muzzey

Modeled fetal disease risk of a 176 condition expanded carrier screening panel

Kyle A. Beauchamp, K. Eerik Kaseniit, Peter Grauman, Gregory J. Hogan, Kevin R. Haas, Genevieve M. Gould, Kenny K. Wong, Gabriel Lazarin, Eric A. Evans, Dale Muzzey

General validation framework using semi-supervised learning on complex cfDNA clinical assays

Kevin R. Haas, Kyle A. Beauchamp, Jeff Tratner, Kevin D’Auria, Chuba Oyolu, Carrie Haverty, Dale Muzzey

NSGC 2017

Next-generation counseling: A model for non-invasive prenatal screening results disclosure and patient management

Colleen Schmitt MS CGC, Aishwarya Arjunan MS CGC, Jamie Kostialik MS CGC, Dave Peticolas MS, Beth Denne MS CGC, Gabriel Lazarin MS CGC, Carrie Haverty MS CGC

Copy number variant calling on a 176 disease expanded carrier screening panel

Kyle A. Beauchamp, PhD; Peter Grauman, BS; Gregory J. Hogan, PhD; Kevin R. Haas, PhD; Genevieve M. Gould, PhD; Kenny K. Wong, MS CGC; Gabriel Lazarin, MS CGC; Eric A. Evans, PhD; Imran S. Haque, PhD; Dale Muzzey, PhD

Strategies to avoid false positives caused by maternal copy number variants in noninvasive prenatal screening

Eerik Kaseniit* MEng, Gregory J. Hogan* PhD, Kevin D’Auria PhD, Carrie Haverty MS LCGC, Dale Muzzey PhD

The Frequency and Impact of Dependent Alleles in Expanded Carrier Screening

Lisa Cushman Spock, PhD, CGC; Megan Judkins, MS, CGC; Jessica Connor, MS, CGC; Christine Lo, PhD; K. Eerik Kaseniit, MEng; Krista Moyer, MS, CGC; H. Peter Kang, MD; Eric A. Evans, PhD; Rebecca Mar-Heyming, PhD

Variants that cross the line: An internal review of classification evidence for truncations of the C-terminus

Megan Judkins; Jessica Connor; John Castiblanco; Nicole Beier; Matthew Brown; Christine Lo; Eric Evans; H. Peter Kang; Rebecca Mar-Heyming

Incidental detection of colon cancer via non-invasive prenatal screening and comparative re-screen after treatment

Susan Hancock, Kali Swift, Carrie Haverty, Greg Hogan, Kevin D’Auria, and Peter Kang

A pilot study of patient experience with an automated assessment tool for hereditary cancer risk

Lim-Harashima, J., Bucheit, L., Ready, K., Hafen, B., Bagley, H

AGBT 2017

When edge cases aren’t so “edgy” anymore: Providing prenatal cfDNA screening to the masses

Kevin R. Haas PhD, Carrie Haverty MS LCGC, Gregory J. Hogan PhD, Eerik Kaseniit MEng, Carlo G. Artieri PhD, Colleen Schmitt MS CGC, Dale Muzzey PhD

ISPD 2017

Next-generation counseling: A model for non-invasive prenatal screening results disclosure and patient management

Schmitt C, Arjunan A, Kostialik J, Peticolas D, Denne B, Lazarin G, Haverty C.

Copy number variant calling on a 176 disease expanded carrier screening panel including DMD

Beauchamp KA, Grauman P, Hogan GJ, Haas, KR, Gould GM, Wong KK, Lazarin G, Evans EA, Haque IS, Muzzey D.

Top Five Posters at ISPD 2017

Accurate Fetal Fraction from NIPS using Whole Genome Sequencing

Haas KR, D’Auria K, Tratner J, Oyolu C, Haverty C, Muzzey D.

ESHG 2017

Systematic design and comparison of expanded carrier screening panels.

Beauchamp KA, Lazarin GA, Kang HP, Wong KK, Evans EA, Goldberg JD, Haque IS, Muzzey D.

ACMG 2017

ClinVar submitter list leaderboard obscures extensive variation and bias in submission types.

Kaseniit KE, Karczewski K, Haque IS.
Received Top Rated Abstract Award

Duplication Tag SNP g.27134T>G should not be considered diagnostic of SMA carrier status.

Davison D, Kaseniit KE, Haque IS.
Received Top Rated Abstract Award

Counseling experience with incidental cancer genes in expanded carrier screening.

Wong KK, Bucheit L, Ready K, Denne E, Kaseniit KE, Artieri C.

Copy number variant calling on a 176 condition expanded carrier screening panel including DMD.

Beauchamp KA, Grauman P, Haas KR, Hogan GJ, Gould GM, Lazarin GA, Wong KK, Evans EA, Goldberg JD, Haque IS, Muzzey D.
Received Top Rated Abstract Award

Ensuring high accuracy of clinically relevant results from NGS data using high-throughput, custom software that enables expert human review.

Haas KR, Muzzey D, Hogan GJ, Kash S, Johnson J, Tran T, Olson E, Packer A, Krenesky P, Siddhanti S, Haque IS, Kang HP.

Discordance rates in reduced-penetrance genes: A look at ATM and CHEK2.

Judkins M, Castiblanco J, Candille S, Ray J, Hensley K, Beaumont C, Olson E, Evans EA, Haque IS, Kang HP, Mar-Heyming R.

High-throughput curation and interpretation of inherited disease variants in a CLIA laboratory.

Karimi K, Mar-Heyming R, Moyer K, Kang HP, Beauchamp KA, Haque IS, Evans EA.

SMFM 2017

The impact of copy number analysis in expanded carrier screening.

Beauchamp KA, Grauman P, Haas KR, Hogan GJ, Gould GM, Lazarin GA, Wong K, Evans EA, Goldberg JD, Haque IS, Muzzey D.

AMP 2016

Validation of internal laboratory variant classifications using ClinVar.

Castiblanco J, Judkins M, Candille S, Beaumont C, Olson E, Evans EA, Haque IS, H. Kang HP, Mar-Heyming R.

Using simulation for improved design of clinical next-generation sequencing panels.

Gould G, Wang X, Grauman P, Hogan G, Robertson A, Maguire J, Kang HP, Haque IS, Evans EA.

ASHG 2016

Comparing the clinical yield of carrier screening: genotyping versus exon sequencing.

Beauchamp KA, Lazarin GA, Kang HP, Wong K, Evans EA, Goldberg JD, Haque IS.

Pre-test genetic counseling as a requirement for germline hereditary cancer testing: what do patients do?

Lazarin GA, Sedgwick K, Doyle D, Haque IS, Ready K.
Top 10% abstract

ASRM 2016

Clinical utility of expanded carrier screening: Reproductive behaviors of at-risk couples.

Ghiossi C, Ready K, Lieber C, Goldberg JD, Haque IS, Lazarin GA, Wong KK. ASRM 2016.

NSGC 2016

Clinical utility of expanded carrier screening: Reproductive behaviors of at-risk couples.

Ghiossi C, Ready K, Lieber C, Goldberg JD, Haque IS, Lazarin GA, Wong KK. NSGC 2016

A comparison of self-reported ethnicity and genetic ancestry.

Kaseniit KE, Lo C, Nazareth S, Wong KK, Haque IS. NSGC 2016.

Design and enhanced validation of a 36-gene guideline-compliant inherited cancer panel.

Gould G, Hogan G, Wang X, Robertson A, Theilmann M, Spurka L, Grauman P, Vysotskaia V, Leggett M, Maguire J, Kang HP, Haque IS, Ready K, Evans EA. NSGC 2016

Pretest genetic counseling as a prerequisite for hereditary cancer testing: what do patients do?.

Lazarin GA, Sedgwick K, Doyle D, Haque IS, Ready K. NSGC 2016.

The frequency of incidental findings in carrier screening.

Wong KK, Lazarin GA, Haque IS. NSGC 2016.

Comparing the clinical yield of carrier screening: genotyping versus exon sequencing.

Beauchamp KA, Lazarin GA, Kang HP, Wong KK, Evans EA, Goldberg JD, Haque IS. NSGC 2016.

Variant classification in an unaffected population, an example from expanded carrier screening and a comparison to ClinVar classifications.

Candille C, Judkins M, Castiblanco J, Beaumont C, Olson E, Evans EA, Haque IS, Kang HP, Mar-Heyming R. NSGC 2016.

ACMG 2016

Clinical utility of expanded carrier screening: Reproductive behaviors of at-risk couples.

Ghiossi C, Ready K, Lieber C, Goldberg JD, Haque IS, Wong, KK. ACMG 2016.
Received Top Rated Abstract Award

When cost is no barrier: Uptake in a metropolitan-area free inherited cancer screening program.

Pierson S, Berentsen K, Denne E, Nguyen W, Ready K, Goldberg JD, Haque IS. ACMG 2016.

Putting guidelines into action: Accurate computation of individualized positive predictive value for aneuploidy screening in cell-free DNA.

Lo C, Evans EA, Schmitt C, Haverty C, Haque IS, Goldberg JD. ACMG 2016.
Received Top Rated Abstract Award

Design and validation of an improved non-invasive prenatal screen for fetal aneuploidy.

Oyolu C, Azarshahy M, Bremner C, Chou E, Contreras D, Copeland N, D’Auria K, Hite D, Hogan G, Horn A, Jun C, Lai H, Lee A, Lui K, Muzzey D, O’Donoghue S, Tran T, Wan H, Haverty C, Haque IS, Evans EA. ACMG 2016.

Design of scalable gene panels for carrier screening.

Mehta N, Muzzey D, Leggett M, Wong KK, Lazarin GA, Evans EA, Haque IS. ACMG 2016.

2015

An NGS-based carrier screen for Congenital Adrenal Hyperplasia with 95% detection rate.

Muzzey D, Theilmann MR, D’Auria KM, Lai HH, Chu CS, Haque IS, Evans EA, Kang HP, Maguire JR. AMP 2015.

Next-generation sequencing carrier screen for Alpha Thalassemia identifies both common and rare variants.

Maguire JR, D’Auria KM, Lai HH, Wang X, Chu CS, Haque IS, Evans EA, Kang HP, Muzzey D. AMP 2015.

NGS-based carrier screen for Gaucher’s disease calls variants and detects large rearrangements between GBA and GBAP1.

D’Auria KM, Theilmann MR, Iori K, Chu CS, Haque IS, Evans EA, Kang HP, Maguire JR, Muzzey D. AMP 2015.

Next-generation sequencing assay accurately determines carrier status for Spinal Muscular Atrophy.

Wang X, Wan HY, Oyolu CB, Haas KR, Davison D, Iori K, Chu CS, Haque IS, Evans EA, Kang HP, Muzzey D. AMP 2015.

A unique service delivery model for genetic counseling services.

Denne EW, Gilats M, Lazarin GA, Goldberg JD. NSGC 2015.

Next-generation sequencing carrier screen for Alpha Thalassemia identifies both common and rare variants.

Maguire JR, D’Auria KM, Lai HH, Wang X, Chu CS, Haque IS, Evans EA, Kang HP, Muzzey D. ASHG 2015.

Carrier screening of 346,790 individuals reveals greater risk of severe recessive disease than of Down syndrome or NTDs

Haque IS, Lazarin GA, Raia M, Bellerose H, Muzzey D, D’Auria K, Kang HP, Evans EA, Goldberg JG. ASHG 2015. Reviewer’s Choice Abstract.

NGS-based carrier screen for Gaucher’s disease calls variants and detects large rearrangements between GBA and GBAP1.

D’Auria K, Theilmann M, Iori K, Chu CS, Haque IS, Evans EA, Kang HP, Maguire J, Muzzey D. ASHG 2015.

Next-generation sequencing assay accurately determines carrier status for Spinal Muscular Atrophy.

Wang X, Wan HW, Oyolu CB, Haas KR, Davison D, Iori K, Chu CS, Haque IS, Evans EA, Kang HP, Muzzey D. ASHG 2015.

Next-generation counseling: a model for genomic screening tests results disclosure and patient management.

Lazarin GA, Haque IS. ISPD 2015.

Expanded carrier screening of 322,484 individuals: the case for going beyond CF.

Haque IS, Lazarin GA, Raia M, Bellerose H, Evans EA, Goldberg J. ESHG 2015. Best Poster Award Candidate.

2014