Author

James D. Goldberg

Myriad Genetics

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 3 Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:variant calling· 4 Research Focus:benchmarking· 3 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1

Frequent Co-Authors

Dale MuzzeyiD· 5 shared Imran S. HaqueiD· 4 shared Eric A. EvansiD· 3 shared Gabriel A. LazariniD· 2 shared Kristjan Eerik KaseniitiD· 2 shared Albert K. Lee· 1 shared Ashley Svenson· 1 shared Carlo G. ArtieriiD· 1 shared

Activity by Year

2017-2020 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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Curved chords = mutual co-authorship

5 shared papersGenetic & Genomic Medicine

Dale MuzzeyORCID

Mutual co-authors in cluster

Author profile →

6 papers

Recent·Most cited

High-throughput fetal-fraction amplification increases analytical performance of noninvasive prenatal screening

Noah C. Welker, Albert K. Lee, Rachel A. S. Kjolby, Helen Y. Wan, Mark R. Theilmann, Diana Jeon, James D. Goldberg, Kevin R. Haas, Dale Muzzey, Clement S. Chu

This paper introduces a fetal-fraction amplification (FFA) method that improves the analytical performance of noninvasive prenatal screening by increasing fetal fraction in maternal cell-free DNA samples.

Genetics in Medicine · Nov 14, 2020Peer-reviewedGenetic & Genomic Medicine

Genetic-Ancestry Analysis on >93,000 Individuals Undergoing Expanded Carrier Screening Reveals Limitations of Ethnicity-Based Medical Guidelines

Kristjan Eerik Kaseniit, Imran S. Haque, James D. Goldberg, LEE P. SHULMAN, Dale Muzzey

This study analyzes genetic ancestry in 93,419 individuals to show that ethnicity-based carrier-screening guidelines are incomplete and miss carriers in at-risk populations.

Genetics in Medicine · Jun 28, 2020Peer-reviewedGenetic & Genomic Medicine

A Data-Driven Evaluation of the Size and Content of Expanded Carrier Screening Panels

Rotem Ben‐Shachar, Ashley Svenson, James D. Goldberg, Dale Muzzey

The paper evaluates the impact of carrier rate thresholds on expanded carrier screening panels and finds that stricter thresholds reduce at-risk couple detection.

Genetics in Medicine · Feb 28, 2019Peer-reviewedGenetics

Systematic Design and Comparison of Expanded Carrier Screening Panels

Kyle A. Beauchamp, Dale Muzzey, Kenny K. Wong, Gregory J. Hogan, Kambiz Karimi, Sophie I. Candille, Nikita N. Mehta, Rebecca Mar‐Heyming, Kristjan Eerik Kaseniit, Hyunseok Peter Kang, Eric A. Evans, James D. Goldberg, Gabriel A. Lazarin, Imran S. Haque

The paper evaluates methods for designing expanded carrier screening panels and finds that full-exon sequencing outperforms targeted genotyping in detecting affected fetuses.

Genetics in Medicine · Jun 22, 2017Peer-reviewedGenetics

Noninvasive Prenatal Screening at Low Fetal Fraction: Comparing Whole- Genome Sequencing and Single-Nucleotide Polymorphism Methods

Carlo G. Artieri, Carrie E. Haverty, Eric A. Evans, James D. Goldberg, Imran S. Haque, Yuval Yaron, Dale Muzzey

This study compares whole-genome sequencing and SNP methods for noninvasive prenatal screening at low fetal fractions, finding WGS detects more aneuploidies and avoids unnecessary invasive procedures.

Prenatal Diagnosis · Mar 20, 2017Peer-reviewedGenomics

Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates

Gabriel A. Lazarin, Imran S. Haque, Eric A. Evans, James D. Goldberg

The paper estimates SLOS carrier frequencies and in utero mortality rates by analyzing carrier screening data and comparing predicted to observed birth incidences.

Prenatal Diagnosis · Feb 6, 2017Peer-reviewedGenetics