Search Results - "Darby, Charlotte A."

Piercing the dark matter: bioinformatics of long-range sequencing and mapping by Sedlazeck, Fritz J., Lee, Hayan, Darby, Charlotte A., Schatz, Michael C.

“…Several new genomics technologies have become available that offer long-read sequencing or long-range mapping with higher throughput and higher resolution…”
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Xenolog classification by Darby, Charlotte A, Stolzer, Maureen, Ropp, Patrick J, Barker, Daniel, Durand, Dannie

“…Orthology analysis is a fundamental tool in comparative genomics. Sophisticated methods have been developed to distinguish between orthologs and paralogs and…”
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LRSim: A Linked-Reads Simulator Generating Insights for Better Genome Partitioning by Luo, Ruibang, Sedlazeck, Fritz J., Darby, Charlotte A., Kelly, Stephen M., Schatz, Michael C.

“…Linked-read sequencing, using highly-multiplexed genome partitioning and barcoding, can span hundreds of kilobases to improve de novo assembly, haplotype…”
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Vargas: heuristic-free alignment for assessing linear and graph read aligners by Darby, Charlotte A, Gaddipati, Ravi, Schatz, Michael C, Langmead, Ben

“…Abstract Motivation Read alignment is central to many aspects of modern genomics. Most aligners use heuristics to accelerate processing, but these heuristics…”
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Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads by Darby, Charlotte A., Fitch, James R., Brennan, Patrick J., Kelly, Benjamin J., Bir, Natalie, Magrini, Vincent, Leonard, Jeffrey, Cottrell, Catherine E., Gastier-Foster, Julie M., Wilson, Richard K., Mardis, Elaine R., White, Peter, Langmead, Ben, Schatz, Michael C.

“…Linked-read sequencing enables greatly improves haplotype assembly over standard paired-end analysis. The detection of mosaic single-nucleotide variants…”
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scHLAcount: allele-specific HLA expression from single-cell gene expression data by Darby, Charlotte A, Stubbington, Michael J T, Marks, Patrick J, Martínez Barrio, Álvaro, Fiddes, Ian T

“…Abstract Summary Bulk RNA sequencing studies have demonstrated that human leukocyte antigen (HLA) genes may be expressed in a cell type-specific and…”
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