Foresight Carrier Screen Patient Brochure (Folleto para el paciente de detección de portador de Foresight)Posters
ACNM 2021
Improving inequities in prenatal screening: time to modernize guidelines
Edie Smith, DNP, CNM, WHNP-BC, AGN-BC; Summer Pierson, MS, CGC
ACMG 2021
Contribution of large deletions to recessive Mendelian disease carrier burden within a healthy population
Sam Cox, Senior Clinical Genomics Scientist; John Castiblanco; Raul Torres; Erik Zmuda
Fetal Fraction Amplification in Noninvasive Prenatal Screening: Impact on Fetal Sex Chromosome Analysis.
Susan Hancock, MS, CGC; Christa Adusei, CGC; Dale Muzzey, PhD
ACOG 2021
Expanded carrier screening: Adherence to panel criteria and efficiency of at-risk couple detection
Katie Johansen Taber, PhD; Raul Torres, PhD; Rotem Ben-Shachar, PhD; Aishwarya Arjunan, MS, MPH, CGC; Jim Goldberg, MD
A noninvasive prenatal screen with >4% fetal fraction in all samples
Rotem Ben-Shachar, PhD; Susan Hancock, MS, CGC; Jim Goldberg, MD; Dale Muzzey, PhD
Evaluating the Efficacy of Three Carrier Screening Workflows Designed to Identify At-Risk Carrier Couples
Aishwarya Arjunan, MS, MPH, CGC; Raul Torres, PhD; Anna Gardner, PhD, MPH, MPP; Rotem Ben-Shachar, PhD; Jeff Wootton, PhD; Katie Johansen Taber, PhD;
SMFM 2021
High-throughput fetal-fraction amplification increases analytical performance of noninvasive prenatal screening
Dale Muzzey, Noah Welker, Albert K. Lee, Rachel Kjolby, Helen Y. Wan, Mark R. Theilmann, Diana Jeon,
James D. Goldberg, Kevin R. Haas, Clement Chu
James D. Goldberg, Kevin R. Haas, Clement Chu
AMP 2020
High-throughput fetal-fraction amplification increases analytical performance of noninvasive prenatal screening
Dale Muzzey, Noah Welker, Albert K. Lee, Rachel Kjolby, Helen Y. Wan, Mark R. Theilmann, Diana Jeon, James D. Goldberg, Kevin R. Haas, Clement Chu
The relationship between variant type and phenotype among diseases screened by the Foresight® Expanded Carrier Screen
Kambiz Karimi, PhD; Erik Zmuda, PhD; Krista Moyer, LCGC
NSGC 2020
An evidence-based evaluation of guidelines criteria for condition inclusion on ECS panels: identifying a guidelines-compliant panel
Katie Johansen Taber, PhD; Raul Torres, PhD; Rotem Ben-Shachar, PhD; Aishwarya Arjunan,
MS, MPH, CGC; Jim Goldberg, MD
MS, MPH, CGC; Jim Goldberg, MD
An evidence-based evaluation of guidelines criteria for condition inclusion on ECS panels: identifying a guidelines-compliant panel
Katie Johansen Taber, PhD; Raul Torres, PhD; Rotem Ben-Shachar, PhD; Aishwarya Arjunan,
MS, MPH, CGC; Jim Goldberg, MD
MS, MPH, CGC; Jim Goldberg, MD
Detecting Novel SNVs and Indels in Alpha Thalassemia Carriers
Aishwarya Arjunan,J. Sherry Wang, Katherine Winters, Robert Chin, Laura Melroy, Dale Muzzey, Katie Johansen Taber, Rotem Ben-Shachar, Genevieve Gould
ACOG 2020
Application of a Severity Framework to 176 Genes on an Expanded Carrier Screening Panel
Aishwarya Arjunan, MS, CGC, MPH; Holly Bellerose, MS, CGC; Katherine Johansen Taber, PhD; Gabriel A. Lazarin, MS, CGC
Reducing Results Delivery Time for Couples Undergoing Carrier Screening: A "Tandem-Reflex” Strategy
Aishwarya Arjunan, MS, MPH, CGC; Kristjan Eerik Kaseniit, MEng; Brandon Lee, BA; Jeff Wootton, PhD; Kenny Wong, MS, CGC; Katie Johansen Taber, PhD
ASHG 2020
A novel Bayesian hierarchical model for analytically validating the detection of common and rare autosomal aneuploidies from noninvasive prenatal screening of 48,965 sample
Raul Torres; Rotem Ben-Shachar; Anna Gardiner; Kevin Haas; Albert Lee; Dale Muzzey
ASRM 2020
An evidence-based evaluation of guidelines criteria for condition inclusion on ECS panels: identifying a guidelines-compliant panel
Katie Johansen Taber, PhD, Raul Torres, PhD, Rotem Ben-Shachar, PhD, Aishwarya Arjunan, MS, MPH, CGC and JimGoldberg, MD
ACMG 2020
Expanded Aneuploidy Analysis Reveals Trisomy 2: Rare Aneuploidy Result via NIPS Directs Focused Care
Susan Hancock, MS, CGC; Albert Lee, PhD; Kevin Haas, PhD; Carrie Haverty, MS, CGC
The association of maternal HBB pathogenic variant status and fetal fraction in non-invasive prenatal screening
Dale Muzzey, PhD; Manesha Putra, MD; Kristjan Eerik Kaseniit, MEng; Melissa Ann Hicks, MS; David Hackney, MD, MS
Analytical validation of a sequencing assay for alpha thalassemia that identifies novel variants
Rotem Ben-Shachar, PhD; J. Sherry Wang, PhD; Laura Melroy, MS; Robert Chin, MS; Katherine Winters, BS; Dale Muzzey, PhD; Katie Johansen Taber, PhD; Aishwarya Arjunan, MS, MPH, CGC; Genevieve Gould, PhD
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
Expanded Aneuploidy Analysis Reveals Trisomy 2: Evidence of Rare Aneuploidy via NIPS Provides Opportunity for Focused Care
Susan Hancock, MS, CGC; Albert Lee, PhD; Kevin Haas, PhD; Carrie Haverty, MS, CGC
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
Accurate and high-resolution copy number variant detection in clinical germline screening
Jiani Li, PhD; Kevin R. Haas, PhD; Sun Hae Hong, 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
Genetic-Ancestry Analysis on >95,000 Individuals Undergoing Expanded Carrier Screening Reveals Limitations of Ethnicity-Based Medical Guidelines
Kristjan Eerik Kaseniit, Dale Muzzey
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
Rare Recessive Diseases Enriched in the Ashkenazi Jewish Population but Omitted from Ethnicity-Specific Carrier Screening Guidelines
Kristjan Eerik Kaseniit, Dale Muzzey
Leveraging Whole Genome Sequencing in Noninvasive Prenatal Screening: A Case of Prader-Willi Syndrome Due to Uniparental Disomy
Susan Hancock, Albert Lee, Kevin Haas, Carrie Haverty
Clinical Experience for Noninvasive Prenatal Screen in Assisted Reproductive Technology Pregnancies
Susan Hancock, Rotem Ben-Shachar, Christa Adusei, Carrie Haverty, Dale Muzzey
Avoiding Unnecessary Trade-Offs: Clinical Experience for a Noninvasive Prenatal Screen with Both Low No-Call Rate and High Accuracy
Susan Hancock, Rotem Ben-Shachar, Christa Adusei, Carrie Haverty, Dale Muzzey
Rare Adds Up: Characterization of Mosaicism in Expanded Aneuploidy Analysis via Noninvasive Prenatal Screening
Albert Lee, Susan Hancock, Carrie Haverty, Kevin Haas
Meeting the Demand for Carrier Screening Results Disclosure and Patient Management
Aishwarya Arjunan Rotem Ben-Shachar Jamie Kostialik, Gabriel Lazarin, Katherine Johansen Taber
Fragile X carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines
Katie Johansen Taber, Harris Naemi,; Jeraldine Lim-Harashima, Jim Goldberg
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
Rare Adds Up: Characterization of Mosaicism in Expanded Aneuploidy Analysis via Noninvasive Prenatal Screening
Albert Lee; Susan Hancock, Carrie Haverty; Kevin R. Haas PhD
Leveraging whole genome sequencing in noninvasive prenatal screening: a case of Prader-Willi syndrome due to uniparental disomy
Susan Hancock, Albert Lee, Kevin Haas, Carrie Haverty
Avoiding Unnecessary Trade-offs: Clinical Experience for a Noninvasive Prenatal Screen With Both Low Test Failure Rate and High Accuracy
Susan Hancock, Rotem Ben-Shachar, Christa Adusei, Carrie Haverty, Dale Muzzey
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
A data-driven approach for determining the optimal content for expanded carrier screening panels
Rotem Ben-Shachar PhD, Ashley Svenson MS, CGC, Dale Muzzey PhD
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
Detection of Copy-Number Variants in Expanded Carrier Screening Maximizes Identification of Cystic Fibrosis Carriers
Kyle A. Beauchamp, Peter V. Grauman, Lindsay Spurka, 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
Accuracy and performance of a digital identification tool for hereditary cancer in a largely unaffected population
Leslie Bucheit, Kaylene Ready, Katie Johansen Taber
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
Detection of Copy-Number Variants in Expanded Carrier Screening Maximizes Identification of Cystic Fibrosis Carriers
Kyle A. Beauchamp, Peter V. Grauman, Lindsay Spurka, Dale Muzzey
A data-driven approach for determining the optimal content for expanded carrier screening panels
Rotem Ben-Shachar, Ashley Svenson, 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
CNV contribution to pathogenic alleles within a healthy population: results from expanded carrier screening of 137k individuals
Samuel Cox, Eerik Kaseniit, Rebecca Mar-Heyming, H. Peter Kang, Saurav Guha
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
When is a disease too rare for screening? A statistical framework for estimating clinical sensitivity for expanded carrier screening panels
Rotem Ben-Shachar, Ashley Svenson, 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
Clinical experience for a noninvasive prenatal screen that demonstrates high accuracy without routinely failing samples below a fetal-fraction threshold
Susan Hancock, Rotem Ben-Shachar, Christa Adusei, Carrie Haverty, Dale Muzzey
ASRM 2018
Clinical utility of preconception expanded carrier screening
Katie Johansen Taber, Kyle Beauchamp, Gabriel Lazarin, Dale Muzzey, Aishwarya Arjunan, Jim Goldberg
Detection of copy-number variants in expanded carrier screening maximizes identification of cystic fibrosis carriers
Kyle A. Beauchamp, Peter V. Grauman, Lindsay Spurka, Dale Muzzey
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
Family history matters: A case of allele reclassifications secondary to prior molecular diagnoses
Lauren Isley, Rebecca Mar-Heyming
A data-driven approach for determining the optimal content for expanded carrier screening panels
Rotem Ben-Shachar, Ashley Svenson, Dale Muzzey
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
Carrier screening should be as common as folic acid before pregnancy: the role of genetic testing in population health management
Aishwarya Arjunan, Maureen Conway
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
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
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
Comparison and concordance of reported cancer family history between an automated patient assessment tool and genetic counselor recorded pedigrees: findings from a pilot study
Bucheit, L., Lim-Harashima, J., Ready, K., 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
Strategies to avoid false positives caused by maternal copy number variants in noninvasive prenatal screening
Hogan GJ, Kaseniit KE, D’Auria K, Haverty C, Muzzey D
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
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
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
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.
Analysis of unique mutation distribution, ethnicity and test indication trends in over 1,200 positive cases identified by inherited cancer screening
Bucheit L, Price KS, Artieri C, Kaseniit KE, Haque IS.
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
Received Top Rated Abstract Award