Author

Sarah Garcia

10X Genomics (United States)

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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Genomics· 4

Signature Assays, Organisms & Methods

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Research Focus:variant calling· 4 Approach:experimental assay· 3 Assay:whole-genome sequencing· 3 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1

Frequent Co-Authors

Deanna M. ChurchiD· 3 shared Stephen R. WilliamsiD· 3 shared Andrew Wei Xu· 2 shared David A. StaffordiD· 2 shared Jill Herschleb· 2 shared Patrick MarksiD· 2 shared Adam J. LoweiD· 1 shared Adrian N. Fehr· 1 shared

Activity by Year

2016-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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3 shared papersGenomics

Deanna M. ChurchORCID

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Author profile →

4 papers

Recent·Most cited

Resolving the Full Spectrum of Human Genome Variation using Linked-Reads

Patrick Marks, Sarah Garcia, Álvaro Martínez Barrio, Kamila Belhocine, Jorge Bernate, Rajiv Bharadwaj, Keith P. Bjornson, Claudia Catalanotti, Josh Delaney, Adrian N. Fehr, Ian T. Fiddes, Brendan D. Galvin, Haynes Heaton, Jill Herschleb, Christopher M. Hindson, , Deanna M. Church

This paper introduces Linked-Reads as a method to comprehensively analyze genome variation, showing it can detect both small and large variants and reconstruct haplotypes more effectively than short-read sequencing.

Genome Research · Apr 1, 2019Peer-reviewedGenomics

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

Tatsiana Aneichyk, William T. J. Hendriks, Rachita Yadav, David S. Shin, Dadi Gao, Christine A. Vaine, Ryan L. Collins, Aloysius Domingo, Benjamin Currall, Alexei Stortchevoi, Trisha Multhaupt‐Buell, Ellen B. Penney, Lilian Cruz, Jyotsna Dhakal, Harrison Brand, , Michael E. Talkowski

This study identifies the causal mechanism of X-linked Dystonia-Parkinsonism (XDP) by integrating genome and transcriptome assembly, revealing a SVA insertion causing intron retention and TAF1 dysfunction.

Cell · Jan 1, 2018Peer-reviewedGenomics

Linked-Read sequencing resolves complex structural variants

Sarah Garcia, Stephen R. Williams, Andrew Wei Xu, Jill Herschleb, Patrick Marks, David A. Stafford, Deanna M. Church

This study evaluates Linked-Read sequencing for detecting structural variants, finding it can identify most known events with low sequencing depth and provides breakpoint resolution.

bioRxiv · Dec 8, 2017 · PreprintGenomics

A variant by any name: quantifying annotation discordance across tools and clinical databases

Jennifer Yen, Sarah Garcia, Aldrin Montana, Jason Harris, Steven Chervitz, John West, Richard Chen, Deanna M Church

This study evaluates variant annotation consistency across tools and databases, finding significant discordance in variant descriptions, particularly for insertions and deletions.

bioRxiv · May 19, 2016Genomics