Author

Sara L. Bristow

Invitae (United States)ORCID 0000-0002-1173-4718Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Rebecca TrutyiD· 2 shared Swaroop AradhyaiD· 2 shared ANDREW P. FELLOWESiD· 1 shared Arun Prasad ManoharaniD· 1 shared Avner Hershlag· 1 shared Brian H. ShirtsiD· 1 shared Catherine Huang· 1 shared Dana Neitzel· 1 shared

Activity by Year

2017-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Rebecca TrutyORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineHuman MutationPeer-reviewedJul 1, 2021

Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTR

Keith Nykamp, Rebecca Truty, Darlene Riethmaier…·Swaroop Aradhya

The paper assesses the phenotypic risks of CFTR T5 haplotype variants in individuals without the R117H variant, finding associations with disease severity and penetrance.

27 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMay 18, 2021

One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

Stephen E. Lincoln, Tina M. Hambuch, Justin M. Zook…·Robert Luke Nussbaum

The paper evaluates the detection of technically challenging variants in NGS workflows using synthetic specimens and clinical data from 450,000 patients, finding significant variability in detection rates.

91 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsBMC GeneticsPeer-reviewedNov 27, 2017

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

R. Shraga, Sarah Yarnall, Sonya Elango…·Óscar Puig

The paper evaluates the reliability of self-reported ethnicity versus genetic ancestry in carrier screening and finds discrepancies that affect carrier risk estimation.

59 citations

humanstatistical model

𝕏 PostBluesky