Maura Costello

发表

High-quality draft assemblies of mammalian genomes from massively parallel sequence data

A. Gnirke, C. Nusbaum, E. Lander, 2010, Proceedings of the National Academy of Sciences.

Evolution of genes and genomes on the Drosophila phylogeny

Melanie A. Huntley, Sonja J. Prohaska, Albert J. Vilella, 2007, Nature.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Ryan L. Collins, Joon-Yong An, Stephan J. Sanders, 2017, Genome Biology.

Characterizing and measuring bias in sequence data

N. Lennon, C. Nusbaum, Ryan Hegarty, 2013, Genome Biology.

Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation

Trevor J Pugh, Dennis C. Friedrich, T. Fennell, 2013, Nucleic acids research.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Ryan L. Collins, Joseph T. Glessner, Stephan J Sanders, 2017, Genome Biology.

Transcriptome variation in human tissues revealed by long-read sequencing

Beryl B. Cummings, Paul J. Hoffman, K. Garimella, 2021, Nature.

Targeted Exon Sequencing by In‐Solution Hybrid Selection

T. Fennell, A. Kernytsky, K. Cibulskis, 2010, Current protocols in human genetics.

High-throughput RNA isoform sequencing using programmable cDNA concatenation

E. Banks, K. Garimella, A. Philippakis, 2021, bioRxiv.

Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms

Yossi Farjoun, Niall J. Lennon, Wendy Brodeur, 2017, bioRxiv.

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript

Ryan L. Collins, K. Garimella, Maura Costello, 2021, The Journal of experimental medicine.

Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms

Yossi Farjoun, Brian Granger, Wendy Brodeur, 2017, BMC Genomics.

High-throughput RNA isoform sequencing using programmed cDNA concatenation.

E. Banks, K. Garimella, A. Philippakis, 2023, Nature biotechnology.