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GENCODE reference annotation for the human and mouse genomes

A Frankish, M Diekhans, AM Ferreira, R Johnson, I Jungreis, J Loveland, ...

Nucleic acids research 47 (D1), D766-D773, 2019

Megbízások: Swiss National Science Foundation, US National Institutes of Health …

[HTML] science.org

The complete sequence of a human genome

S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze, A Mikheenko, ...

Science 376 (6588), 44-53, 2022

Megbízások: US National Science Foundation, Swiss National Science Foundation, US …

[PDF] nature.com

Nanopore sequencing and assembly of a human genome with ultra-long reads

M Jain, S Koren, KH Miga, J Quick, AC Rand, TA Sasani, JR Tyson, ...

Nature biotechnology 36 (4), 338-345, 2018

Megbízások: US National Institutes of Health, Canadian Institutes of Health Research …

[HTML] oup.com

GENCODE 2021

A Frankish, M Diekhans, I Jungreis, J Lagarde, JE Loveland, JM Mudge, ...

Nucleic acids research 49 (D1), D916-D923, 2021

Megbízások: Swiss National Science Foundation, US National Institutes of Health …

Improved data analysis for the MinION nanopore sequencer

M Jain, IT Fiddes, KH Miga, HE Olsen, B Paten, M Akeson

Nature methods 12 (4), 351-356, 2015

Megbízások: US National Institutes of Health

[HTML] cell.com

Comprehensive molecular characterization of pheochromocytoma and paraganglioma

L Fishbein, I Leshchiner, V Walter, L Danilova, AG Robertson, ...

Cancer cell 31 (2), 181-193, 2017

Megbízások: US National Institutes of Health

[HTML] cell.com

Human-specific NOTCH2NL genes affect notch signaling and cortical neurogenesis

IT Fiddes, GA Lodewijk, M Mooring, CM Bosworth, AD Ewing, ...

Cell 173 (6), 1356-1369. e22, 2018

Megbízások: US National Institutes of Health, Howard Hughes Medical Institute …

[HTML] cell.com

Establishing cerebral organoids as models of human-specific brain evolution

AA Pollen, A Bhaduri, MG Andrews, TJ Nowakowski, OS Meyerson, ...

Cell 176 (4), 743-756. e17, 2019

Megbízások: US National Institutes of Health, Howard Hughes Medical Institute, Damon …

[PDF] oup.com

The UCSC genome browser database: 2018 update

J Casper, AS Zweig, C Villarreal, C Tyner, ML Speir, KR Rosenbloom, ...

Nucleic acids research 46 (D1), D762-D769, 2018

Megbízások: US National Institutes of Health, Howard Hughes Medical Institute

Progressive Cactus is a multiple-genome aligner for the thousand-genome era

J Armstrong, G Hickey, M Diekhans, IT Fiddes, AM Novak, A Deran, ...

Nature 587 (7833), 246-251, 2020

Megbízások: US National Institutes of Health, Villum Foundation

[PDF] science.org

High-resolution comparative analysis of great ape genomes

ZN Kronenberg, IT Fiddes, D Gordon, S Murali, S Cantsilieris, ...

Science 360 (6393), eaar6343, 2018

Megbízások: US National Institutes of Health, Howard Hughes Medical Institute, National …

Long-read sequence assembly of the gorilla genome

D Gordon, J Huddleston, MJP Chaisson, CM Hill, ZN Kronenberg, ...

Science 352 (6281), aae0344, 2016

Megbízások: US National Institutes of Health, Howard Hughes Medical Institute

Combinatorial single-cell CRISPR screens by direct guide RNA capture and targeted sequencing

JM Replogle, TM Norman, A Xu, JA Hussmann, J Chen, JZ Cogan, ...

Nature biotechnology 38 (8), 954-961, 2020

Megbízások: US Department of Defense, US National Institutes of Health, Howard Hughes …

A robust benchmark for detection of germline large deletions and insertions

JM Zook, NF Hansen, ND Olson, L Chapman, JC Mullikin, C Xiao, ...

Nature biotechnology 38 (11), 1347-1355, 2020

Megbízások: US National Science Foundation, US Department of Energy, US National …

A comparative genomics multitool for scientific discovery and conservation

Nature 587 (7833), 240-245, 2020

Megbízások: US National Science Foundation, US National Institutes of Health, Howard …

Improved reference genome for the domestic horse increases assembly contiguity and composition

TS Kalbfleisch, ES Rice, MS DePriest Jr, BP Walenz, MS Hestand, ...

Communications biology 1 (1), 197, 2018

Megbízások: US National Institutes of Health, Villum Foundation, European Commission

[PDF] cshlp.org

Resolving the full spectrum of human genome variation using Linked-Reads

P Marks, S Garcia, AM Barrio, K Belhocine, J Bernate, R Bharadwaj, ...

Genome research 29 (4), 635-645, 2019

Megbízások: US National Institutes of Health

Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci

J Lilue, AG Doran, IT Fiddes, M Abrudan, J Armstrong, R Bennett, ...

Nature genetics 50 (11), 1574-1583, 2018

Megbízások: US National Institutes of Health, European Molecular Biology Laboratory, UK …

A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing

AA Petti, SR Williams, CA Miller, IT Fiddes, SN Srivatsan, DY Chen, ...

Nature communications 10 (1), 3660, 2019

Megbízások: US National Institutes of Health

[PDF] google.com