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Posters

NSGC 2019

Clinical utility of hereditary cancer panel testing: impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations
Valentina Vysotskaia, PhD; K. Eerik Kaseniit, MEng; Leslie Bucheit, MS, CGC; Kaylene Ready, MS, CGC; Kristin Price, MS, CGC; Katherine Johansen Taber, PhD
WGS-based NIPS Without a Fetal Fraction Threshold: What are the Clinical Outcomes of No-Calls?
Susan Hancock, MS, CGC; Christa Adusei, MS, CGC; Rotem Ben-Shachar, PhD; Kevin Haas, PhD; Carrie Haverty, MS, CGC
Minimizing Results Delivery Time for Couples Undergoing Carrier Screening by Using a Tandem-Submission-with-Partner-Reflex (“Tandem Reflex”) Strategy
Aishwarya Arjunan, MS, MPH, CGC; Kristjan Eerik Kaseniit, MEng; Marianna Raia, MS, CGC; Brandon Lee, BA; Jeff Wootton, PhD; Kenny Wong, MS, CGC; Katie Johansen Taber, PhD
Application of a Severity Framework to 176 Conditions on an Expanded Carrier Screening Panel
Aishwarya Arjunan, MS, CGC, MPH; Holly Bellerose, MS, CGC; Katherine Johansen Taber, PhD; Gabriel A. Lazarin, MS, CGC

ASHG 2019

A deep learning model for accurate variant calling congenital adrenal hyperplasia
Sun Hae Hong, PhD; Adithya Ganesh; Kyle A. Beauchamp, PhD; Dale Muzzey, PhD; Kevin R. Haas, PhD

ISPD 2019

Rare Adds Up: Characterization of Mosaicism in Expanded Aneuploidy Analysis via Noninvasive Prenatal Screening
Albert Lee, PhD; Susan Hancock, MS, CGC; Carrie Haverty, MS, CGC; Kevin R. Haas, PhD
Avoiding Unnecessary Trade-offs: Clinical Experience for a Noninvasive Prenatal Screen With Both Low Test Failure Rate and High Accuracy
Susan Hancock, MS, CGC; Rotem Ben-Shachar, PhD; Christa Adusei, MS, CGC; Carrie Haverty, MS, CGC; Dale Muzzey, PhD

ACOG 2019

Sequencing-based Carrier Screening for Cystic Fibrosis: Ready for Prime Time?
Kyle A. Beauchamp, PhD; Katherine A. Johansen Taber, PhD; Peter V. Grauman; Lindsay Spurka; Jeraldine Lim-Harashima, MS, CGC; Ashley Svenson, MS, CGC; James D. Goldberg, MD; Dale Muzzey, PhD
Clinical Utility of Expanded Carrier Screening: Results-Guided Actionability and Outcomes
Katie Johansen Taber, PhD; Kyle Beauchamp, PhD; Gabriel Lazarin, MS, CGC; Dale Muzzey, PhD; Aishwarya Arjunan, MS, MPH, CGC; Jim Goldberg, MD
Clinical Experience for Noninvasive Prenatal Screen in Assisted Reproductive Technology Pregnancies
Susan Hancock, MS, CGC; Rotem Ben-Shachar, PhD; Christa Adusei, MS, CGC; Carrie Haverty, MS, CGC; Dale Muzzey, PhD
Next-Generation Counseling: Technology-Driven Prenatal Screening Results Disclosure and Management
Aishwarya Arjunan, MS, MPH, CGC; Rotem Ben-Shacher, PhD; Jamie Kostialik, MS, CGC; Katherine Johansen Taber, MS, CGC; Gabe Lazarin, MS, CGC; Beth Denne, MS, CGC; Dale Muzzey, PhD; Carrie Haverty, MS, CGC
A Data-Driven Evaluation of the Size and Content of Expanded Carrier Screening Panels
Rotem Ben-Shachar, PhD; Ashley Svenson, MS, CGC; James D Goldberg, MD; Dale Muzzey, PhD
Opportunity for Cancer Prevention: 1 in 4 Unaffected Women Meet Hereditary Cancer Testing Criteria
Leslie Bucheit, MS, CGC; Kaylene Ready, MS, CGC; Jonathan Brown, MS; Jim Goldberg, MD, FACOG, FACMG

ACMG 2019

A Data-Driven Evaluation of the Size and Content of Expanded Carrier Screening Panels
Rotem Ben-Shachar, Ashley Svenson, James D. Goldberg, Dale Muzzey
Sequencing as a First-line Methodology for Cystic Fibrosis Carrier Screening
Kyle A. Beauchamp, Katherine A. Johansen Taber, Peter V. Grauman, Lindsay Spurka, Jeraldine Lim-Harashima, Dale Muzzey
Clarity from discordance: Leveraging fetal fraction reduces false positives in noninvasive prenatal screening
Rotem Ben-Shachar, Matthew M. Meredith, Dale Muzzey, Carrie Haverty, Gregory J. Hogan
Application of a severity framework to 176 conditions on an expanded carrier screening panel
Aishwarya Arjunan, Holly Bellerose, Katherine Johansen Taber, Gabriel A. Lazarin
Minimizing Results Delivery Time for Couples Undergoing Carrier Screening by Using a Tandem-Submission-with-Partner-Reflex (“Tandem Reflex”) Strategy
Kristjan Eerik Kaseniit, Marianna Raia, Brandon Lee, Aishwarya Arjunan, Jeff Wootton, Kenny Wong, Katie Johansen Taber
Clinical Experience for Noninvasive Prenatal Screen in Assisted Reproductive Technology Pregnancies
Susan Hancock, Rotem Ben-Shachar, Christa Adusei, Carrie Haverty, Dale Muzzey
Meeting the Demand for Carrier Screening Results Disclosure and Patient Management
Aishwarya Arjunan Rotem Ben-Shachar Jamie Kostialik, Gabriel Lazarin, Katherine Johansen Taber
Clinical Utility of Testing for PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D: Management Changes and Patient Adherence to Provider Recommendations
Valentina Vysotskaia, K. Eerik Kaseniit, Kristin Price, Leslie Bucheit, Kaylene Ready, Katie Johansen Taber
Making the Case for Splice Indel Pathogenicity: A Comparison of Single Nucleotide and Insertion Variants at the +3 Site
Marlea Gemmel, Katrina Tanaka, John Castiblanco, Krista Moyer, Peter Kang, Rebecca Mar-Heyming, Saurav Guha

SMFM 2019

Detection of Copy-Number Variants in Expanded Carrier Screening Maximizes Identification of Cystic Fibrosis Carriers
Kyle A. Beauchamp, Katherine A. Johansen Taber, Peter V. Grauman, Lindsay Spurka, Jeraldine Lim-Harashima, Ashley Svenson, James D. Goldberg, Dale Muzzey
Clarity from discordance: Leveraging fetal fraction reduces false positives in noninvasive prenatal screening
Rotem Ben-Shachar, Matthew M Meredith, Dale Muzzey, Carrie Haverty, Gregory J Hogan
A Data-Driven Evaluation of the Size and Content of Expanded Carrier Screening Panels
Rotem Ben-Shachar, Ashley Svenson, James D Goldberg, Dale Muzzey
Clinical Utility of Expanded Carrier Screening: Results-Guided Actionability and Outcomes
Katie Johansen Taber, Kyle Beauchamp, Gabriel Lazarin, Dale Muzzey, Aishwarya Arjunan, Jim Goldberg
Education and genetic counseling in the era of expanding genetic technology
Aishwarya Arjunan, Rotem Ben-Shachar, Jamie Kostialik, Katherine Johansen Taber, Gabe Lazarin, Beth Denne, Dale Muzzey, Carrie Haverty

NSGC 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
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
High throughput counseling: meeting the demand for carrier screening results disclosure and patient management
Aishwarya Arjunan, Rotem Ben-Shachar, Jamie Kostialik, Gabriel Lazarin, Katherine Johansen Taber
Interpretation of microdeletion variants aided by population analysis of copy-number variation
K. Eerik Kaseniit, Greg Hogan, Kevin D’Auria, Carrie Haverty, Dale Muzzey
Custom reporting structure for accurate risk assessment of NPHS2-related Nephrotic Syndrome in Counsyl’s Foresight carrier screen
Lucas Wiman, Domenic Previte, Kristine Sarnlertsophon, Krista Moyer, Kambiz Karimi, Beth Denne, Kenny Wong, Rebecca Mar-Heyming, Peter Kang
Clinical utility of expanded carrier screening
Katie Johansen Taber, Kyle Beauchamp, Gabriel Lazarin, Dale Muzzey, Aishwarya Arjunan, Jim Goldberg

AMP 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
Interpretation of microdeletion variants aided by population analysis of copy-number variation
K. Eerik Kaseniit, Greg Hogan, Kevin D’Auria, Carrie Haverty, Dale Muzzey

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

CMSA 2018

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, Melanie W. Hardy, Laura Kiger, 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

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

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