Kamu erişimi zorunlu olan makaleler - Giuseppe NarzisiDaha fazla bilgi edinin
Bir yerde sunuluyor: 28
The contribution of de novo coding mutations to autism spectrum disorder
I Iossifov, BJ O’roak, SJ Sanders, M Ronemus, N Krumm, D Levy, ...
Nature 515 (7526), 216-221, 2014
Zorunlu olanlar: US National Institutes of Health, Howard Hughes Medical Institute, Canadian …
De novo gene disruptions in children on the autistic spectrum
I Iossifov, M Ronemus, D Levy, Z Wang, I Hakker, J Rosenbaum, ...
Neuron 74 (2), 285-299, 2012
Zorunlu olanlar: US National Institutes of Health
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
M Byrska-Bishop, US Evani, X Zhao, AO Basile, HJ Abel, AA Regier, ...
Cell 185 (18), 3426-3440. e19, 2022
Zorunlu olanlar: US National Institutes of Health, European Molecular Biology Laboratory …
Genome of the long-living sacred lotus (Nelumbo nucifera Gaertn.)
R Ming, R VanBuren, Y Liu, M Yang, Y Han, LT Li, Q Zhang, MJ Kim, ...
Genome biology 14, 1-11, 2013
Zorunlu olanlar: US National Institutes of Health
Detection of long repeat expansions from PCR-free whole-genome sequence data
E Dolzhenko, JJ Van Vugt, RJ Shaw, MA Bekritsky, M Van Blitterswijk, ...
Genome research 27 (11), 1895-1903, 2017
Zorunlu olanlar: US National Institutes of Health, Health Research Board, Ireland, UK …
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
E Dolzhenko, V Deshpande, F Schlesinger, P Krusche, R Petrovski, ...
Bioinformatics 35 (22), 4754-4756, 2019
Zorunlu olanlar: UK Medical Research Council
Accurate de novo and transmitted indel detection in exome-capture data using microassembly
G Narzisi, JA O'rawe, I Iossifov, H Fang, Y Lee, Z Wang, Y Wu, GJ Lyon, ...
Nature methods 11 (10), 1033-1036, 2014
Zorunlu olanlar: US National Institutes of Health
Reducing INDEL calling errors in whole genome and exome sequencing data
H Fang, Y Wu, G Narzisi, JA ORawe, LTJ Barrón, J Rosenbaum, ...
Genome medicine 6, 1-17, 2014
Zorunlu olanlar: US National Institutes of Health
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
E Dolzhenko, MF Bennett, PA Richmond, B Trost, S Chen, JJFA Van Vugt, ...
Genome biology 21, 1-14, 2020
Zorunlu olanlar: National Health and Medical Research Council, Australia, Canadian Institutes …
Curated variation benchmarks for challenging medically relevant autosomal genes
J Wagner, ND Olson, L Harris, J McDaniel, H Cheng, A Fungtammasan, ...
Nature biotechnology 40 (5), 672-680, 2022
Zorunlu olanlar: US National Institutes of Health, US National Aeronautics and Space …
Benchmarking challenging small variants with linked and long reads
J Wagner, ND Olson, L Harris, Z Khan, J Farek, M Mahmoud, A Stankovic, ...
Cell genomics 2 (5), 2022
Zorunlu olanlar: US National Institutes of Health, German Research Foundation, Federal …
Indel variant analysis of short-read sequencing data with Scalpel
H Fang, EA Bergmann, K Arora, V Vacic, MC Zody, I Iossifov, JA O'rawe, ...
Nature protocols 11 (12), 2529-2548, 2016
Zorunlu olanlar: US National Science Foundation, US National Institutes of Health
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study
J Foox, SW Tighe, CM Nicolet, JM Zook, M Byrska-Bishop, WE Clarke, ...
Nature biotechnology 39 (9), 1129-1140, 2021
Zorunlu olanlar: Bill & Melinda Gates Foundation, US National Institutes of Health
Hawkeye and AMOS: visualizing and assessing the quality of genome assemblies
MC Schatz, AM Phillippy, DD Sommer, AL Delcher, D Puiu, G Narzisi, ...
Briefings in bioinformatics 14 (2), 213-224, 2013
Zorunlu olanlar: US National Institutes of Health
The challenge of small-scale repeats for indel discovery
G Narzisi, MC Schatz
Frontiers in bioengineering and biotechnology 3, 8, 2015
Zorunlu olanlar: US National Institutes of Health
YES1 amplification is a mechanism of acquired resistance to EGFR inhibitors identified by transposon mutagenesis and clinical genomics
PD Fan, G Narzisi, AD Jayaprakash, E Venturini, N Robine, P Smibert, ...
Proceedings of the National Academy of Sciences 115 (26), E6030-E6038, 2018
Zorunlu olanlar: US National Institutes of Health, V Foundation, USA, Damon Runyon Cancer …
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
EM Padhi, TJ Hayeck, Z Cheng, S Chatterjee, BJ Mannion, ...
Human genomics 15, 1-15, 2021
Zorunlu olanlar: US Department of Energy, US National Institutes of Health
The genomic basis of evolutionary differentiation among honey bees
B Fouks, P Brand, HN Nguyen, J Herman, F Camara, D Ence, DE Hagen, ...
Genome research 31 (7), 1203-1215, 2021
Zorunlu olanlar: US National Science Foundation, US National Institutes of Health, US …
A strategy for building and using a human reference pangenome
B Llamas, G Narzisi, V Schneider, PA Audano, E Biederstedt, L Blauvelt, ...
F1000Research 8, 2019
Zorunlu olanlar: US National Institutes of Health, Australian Research Council, Carlsberg …
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population
M Zanovello, K Ibáñez, AL Brown, P Sivakumar, A Bombaci, L Santos, ...
Brain 146 (7), 2723-2729, 2023
Zorunlu olanlar: US National Institutes of Health, UK Medical Research Council, National …
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