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Maria Nattestad
Maria Nattestad
OMGenomics Labs
Verified email at google.com - Homepage
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Cited by
Year
Phased diploid genome assembly with single-molecule real-time sequencing
CS Chin, P Peluso, FJ Sedlazeck, M Nattestad, GT Concepcion, A Clum, ...
Nature methods 13 (12), 1050-1054, 2016
18402016
GenomeScope: fast reference-free genome profiling from short reads
GW Vurture, FJ Sedlazeck, M Nattestad, CJ Underwood, H Fang, ...
Bioinformatics 33 (14), 2202-2204, 2017
14472017
Accurate detection of complex structural variations using single-molecule sequencing
FJ Sedlazeck, P Rescheneder, M Smolka, H Fang, M Nattestad, ...
Nature methods 15 (6), 461-468, 2018
14012018
A draft human pangenome reference
WW Liao, M Asri, J Ebler, D Doerr, M Haukness, G Hickey, S Lu, JK Lucas, ...
Nature 617 (7960), 312-324, 2023
5432023
Assemblytics: a web analytics tool for the detection of variants from an assembly
M Nattestad, MC Schatz
Bioinformatics 32 (19), 3021-3023, 2016
3242016
Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads
K Shafin, T Pesout, PC Chang, M Nattestad, A Kolesnikov, S Goel, G Baid, ...
Nature methods 18 (11), 1322-1332, 2021
1942021
Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line
M Nattestad, S Goodwin, K Ng, T Baslan, FJ Sedlazeck, P Rescheneder, ...
Genome research 28 (8), 1126-1135, 2018
1872018
The effect of α-mating factor secretion signal mutations on recombinant protein expression in Pichia pastoris
GP Lin-Cereghino, CM Stark, D Kim, J Chang, N Shaheen, H Poerwanto, ...
Gene 519 (2), 311-317, 2013
1812013
Third-generation sequencing and the future of genomics
H Lee, J Gurtowski, S Yoo, M Nattestad, S Marcus, S Goodwin, ...
BioRxiv, 048603, 2016
1782016
Ultrarapid nanopore genome sequencing in a critical care setting
JE Gorzynski, SD Goenka, K Shafin, TD Jensen, DG Fisk, ME Grove, ...
New England Journal of Medicine 386 (7), 700-702, 2022
1722022
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
ND Olson, J Wagner, J McDaniel, SH Stephens, ST Westreich, ...
Cell genomics 2 (5), 2022
1432022
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer
G Baid, DE Cook, K Shafin, T Yun, F Llinares-López, Q Berthet, ...
Nature Biotechnology 41 (2), 232-238, 2023
982023
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing
SD Goenka, JE Gorzynski, K Shafin, DG Fisk, T Pesout, TD Jensen, ...
Nature Biotechnology 40 (7), 1035-1041, 2022
732022
Ribbon: intuitive visualization for complex genomic variation
M Nattestad, R Aboukhalil, CS Chin, MC Schatz
Bioinformatics 37 (3), 413-415, 2021
632021
Analysis of the 5′ untranslated region (5′ UTR) of the alcohol oxidase 1 (AOX1) gene in recombinant protein expression in Pichia pastoris
CA Staley, A Huang, M Nattestad, KT Oshiro, LE Ray, T Mulye, ZH Li, T Le, ...
Gene 496 (2), 118-127, 2012
572012
Complete telomere-to-telomere de novo assembly of the Plasmodium falciparum genome through long-read (>11 kb), single …
SS Vembar, M Seetin, C Lambert, M Nattestad, MC Schatz, P Baybayan, ...
DNA Research 23 (4), 339-351, 2016
552016
Ribbon: Visualizing complex genome alignments and structural variation
M Nattestad, CS Chin, MC Schatz
BioRxiv, 082123, 2016
462016
Haplotype-aware variant calling enables high accuracy in nanopore long-reads using deep neural networks
K Shafin, T Pesout, PC Chang, M Nattestad, A Kolesnikov, S Goel, G Baid, ...
BioRxiv, 2021.03. 04.433952, 2021
352021
Gaps and complex structurally variant loci in phased genome assemblies
D Porubsky, MR Vollger, WT Harvey, AN Rozanski, P Ebert, G Hickey, ...
Genome research 33 (4), 496-510, 2023
272023
An extensive sequence dataset of gold-standard samples for benchmarking and development
G Baid, M Nattestad, A Kolesnikov, S Goel, H Yang, PC Chang, A Carroll
bioRxiv, 2020.12. 11.422022, 2020
212020
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