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Search life-sciences literature (45,100,050 articles, preprints and more)

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Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications
Arres J, Elavalli S, Behl S, Matias Sanchez D, Ali AA, Ahmed Yehia Abdelaziz Saad A, Attia A, Minas C, Pariyachery S, Ahmed S, Aldhuhoori F, Thulasidharan N, Katagi G, Soliman O, Purohit S, Kusuma V, Cardoso T, Paulin LF, Sanio P, [...] Quilez J
medRxiv, 04 Nov 2024
Cited by: 0 articles | PPR: PPR934667
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Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.
Behera S, Belyeu JR, Chen X, Paulin LF, Nguyen NQH, Newman E, Mahmoud M, Menon VK, Qi Q, Joshi P, Marcovina S, Rossi M, Roller E, Han J, Onuchic V, Avery CL, Ballantyne CM, Rodriguez CJ, Kaplan RC, [...] Sedlazeck FJ
BMC Med Genomics, 17(1):255, 24 Oct 2024
Cited by: 0 articles | PMID: 39449055 | PMCID: PMC11515395
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Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2.
Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CMB, Proukakis C, Sedlazeck FJ
Nat Biotechnol, 42(10):1616, 01 Oct 2024
Cited by: 2 articles | PMID: 38253882 | PMCID: PMC11260898
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Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes.
O'Neill K, Pleasance E, Fan J, Akbari V, Chang G, Dixon K, Csizmok V, MacLennan S, Porter V, Galbraith A, Grisdale CJ, Culibrk L, Dupuis JH, Corbett R, Hopkins J, Bowlby R, Pandoh P, Smailus DE, Cheng D, [...] Jones SJM
Cell Genom, 4(11):100674, 14 Oct 2024
Cited by: 1 article | PMID: 39406235
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Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair
McDaniel JH, Patel V, Olson ND, He H, He Z, Cole KD, Schmitt A, Sikkink K, Sedlazeck FJ, Doddapaneni H, Jhangiani SN, Muzny DM, Gingras M, Mehta H, Paulin LF, Hastie AR, Yu H, Weigman V, Rojas A, [...] Zook JM
bioRxiv, 22 Sep 2024
Cited by: 0 articles | PPR: PPR913417
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Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci.
Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, Höps W, Benito E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Hwang JP, Bhamidipati SV, Muzny DM, Fatih JM, Gibbs RA, [...] Carvalho CMB
Cell Genom, 4(7):100590, 21 Jun 2024
Cited by: 0 articles | PMID: 38908378 | PMCID: PMC11293582
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The benefit of a complete reference genome for cancer structural variant analysis
Paulin LF, Fan J, O’Neill K, Pleasance E, Porter VL, Jones SJ, Sedlazeck FJ
medRxiv, 18 Mar 2024
Cited by: 0 articles | PPR: PPR824000
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Detection of mosaic and population-level structural variants with Sniffles2.
Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CMB, Proukakis C, Sedlazeck FJ
Nat Biotechnol, 42(10):1571-1580, 02 Jan 2024
Cited by: 38 articles | PMID: 38168980 | PMCID: PMC11217151
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Improved sequence mapping using a complete reference genome and lift-over.
Chen NC, Paulin LF, Sedlazeck FJ, Koren S, Phillippy AM, Langmead B
Nat Methods, 21(1):41-49, 30 Nov 2023
Cited by: 11 articles | PMID: 38036856
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Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures
Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, Höps W, Benito-Garagorri E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Muzny DM, Fatih JM, Gibbs RA, Pendleton M, Harrington E, [...] Carvalho CM
bioRxiv, 03 Oct 2023
Cited by: 0 articles | PPR: PPR735242
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The complete sequence of a human Y chromosome.
Rhie A, Nurk S, Cechova M, Hoyt SJ, Taylor DJ, Altemose N, Hook PW, Koren S, Rautiainen M, Alexandrov IA, Allen J, Asri M, Bzikadze AV, Chen NC, Chin CS, Diekhans M, Flicek P, Formenti G, Fungtammasan A, [...] Phillippy AM
Nature, 621(7978):344-354, 23 Aug 2023
Cited by: 95 articles | PMID: 37612512 | PMCID: PMC10752217
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Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk
Behera S, Belyeu JR, Chen X, Paulin LF, Nguyen N, Newman E, Mahmoud M, Menon VK, Qi Q, Joshi P, Marcovina S, Rossi M, Roller E, Han J, Onuchic V, Avery CL, Ballantyne C, Rodriguez CJ, Kaplan RC, [...] Sedlazeck FJ
bioRxiv, 27 Apr 2023
Cited by: 0 articles | PPR: PPR652126
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FixItFelix: improving genomic analysis by fixing reference errors.
Behera S, LeFaive J, Orchard P, Mahmoud M, Paulin LF, Farek J, Soto DC, Parker SCJ, Smith AV, Dennis MY, Zook JM, Sedlazeck FJ
Genome Biol, 24(1):31, 21 Feb 2023
Cited by: 10 articles | PMID: 36810122 | PMCID: PMC9942314
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SVhound: detection of regions that harbor yet undetected structural variation.
Paulin LF, Raveendran M, Harris RA, Rogers J, von Haeseler A, Sedlazeck FJ
BMC Bioinformatics, 24(1):23, 20 Jan 2023
Cited by: 0 articles | PMID: 36670361 | PMCID: PMC9854228
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The complete sequence of a human Y chromosome
Rhie A, Nurk S, Cechova M, Hoyt SJ, Taylor DJ, Altemose N, Hook PW, Koren S, Rautiainen M, Alexandrov IA, Allen J, Asri M, Bzikadze AV, Chen N, Chin C, Diekhans M, Flicek P, Formenti G, Fungtammasan A, [...] Phillippy AM
bioRxiv, 01 Dec 2022
Cited by: 0 articles | PPR: PPR578960
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Fixing reference errors efficiently improves sequencing results
Behera S, LeFaive J, Orchard P, Mahmoud M, Paulin LF, Farek J, Soto DC, Parker SC, Smith AV, Dennis MY, Zook JM, Sedlazeck F, Sedlazeck F
bioRxiv, 20 Jul 2022
Cited by: 0 articles | PPR: PPR520724
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The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms.
Walker K, Kalra D, Lowdon R, Chen G, Molik D, Soto DC, Dabbaghie F, Khleifat AA, Mahmoud M, Paulin LF, Raza MS, Pfeifer SP, Agustinho DP, Aliyev E, Avdeyev P, Barrozo ER, Behera S, Billingsley K, Chong LC, [...] Busby B
F1000Res, 11:530, 16 May 2022
Cited by: 0 articles | PMID: 36262335 | PMCID: PMC9557141
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Comprehensive Structural Variant Detection: From Mosaic to Population-Level
Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CM, Proukakis C, Sedlazeck FJ
bioRxiv, 05 Apr 2022
Cited by: 0 articles | PPR: PPR477461
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Improved sequence mapping using a complete reference genome and lift-over
Chen N, Paulin LF, Sedlazeck FJ, Koren S, Phillippy AM, Langmead B
bioRxiv, 28 Apr 2022
Cited by: 0 articles | PPR: PPR486444
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The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms
Walker K, Kalra D, Lowdon R, Chen G, Molik D, Soto DC, Dabbaghie F, Khleifat AA, Mahmoud M, Paulin LF, Raza MS, Pfeifer SP, Agustinho DP, Aliyev E, Avdeyev P, Barrozo ER, Behera S, Billingsley K, Chong LC, [...] Busby B
F1000Res, 16 May 2022
Cited by: 0 articles | PPR: PPR492693
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SVhound: Detection of future Structural Variation hotspots
Paulin LF, Raveendran M, Harris RA, Rogers J, von Haeseler A, Sedlazeck FJ
bioRxiv, 10 Apr 2021
Cited by: 0 articles | PPR: PPR309725
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ATM controls meiotic DNA double-strand break formation and recombination and affects synaptonemal complex organization in plants.
Kurzbauer MT, Janisiw MP, Paulin LF, Prusén Mota I, Tomanov K, Krsicka O, Haeseler AV, Schubert V, Schlögelhofer P
Plant Cell, 33(5):1633-1656, 01 Jul 2021
Cited by: 18 articles | PMID: 33659989 | PMCID: PMC8254504
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Poly(ADP-ribose) glycohydrolase coordinates meiotic DNA double-strand break induction and repair independent of its catalytic activity.
Janisiw E, Raices M, Balmir F, Paulin LF, Baudrimont A, von Haeseler A, Yanowitz JL, Jantsch V, Silva N
Nat Commun, 11(1):4869, 25 Sep 2020
Cited by: 12 articles | PMID: 32978394 | PMCID: PMC7519143
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PhyloFlu, a DNA microarray for determining the phylogenetic origin of influenza A virus gene segments and the genomic fingerprint of viral strains.
Paulin LF, de los D Soto-Del Río M, Sánchez I, Hernández J, Gutiérrez-Ríos RM, López-Martínez I, Wong-Chew RM, Parissi-Crivelli A, Isa P, López S, Arias CF
J Clin Microbiol, 52(3):803-813, 18 Dec 2013
Cited by: 4 articles | PMID: 24353006 | PMCID: PMC3957772
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[The prelude to psychiatric reform in Brazil: the contradictions of the 1970s].
Paulin LF, Turato E
Hist Cienc Saude Manguinhos, 11(2):241-258, 01 May 2004
Cited by: 7 articles | PMID: 16646147
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