Literature DB >> 33618748

Megabase-scale methylation phasing using nanopore long reads and NanoMethPhase.

Vahid Akbari1,2, Jean-Michel Garant1, Kieran O'Neill1, Pawan Pandoh1, Richard Moore1, Marco A Marra1,2, Martin Hirst1,3, Steven J M Jones4,5.   

Abstract

The ability of nanopore sequencing to simultaneously detect modified nucleotides while producing long reads makes it ideal for detecting and phasing allele-specific methylation. However, there is currently no complete software for detecting SNPs, phasing haplotypes, and mapping methylation to these from nanopore sequence data. Here, we present NanoMethPhase, a software tool to phase 5-methylcytosine from nanopore sequencing. We also present SNVoter, which can post-process nanopore SNV calls to improve accuracy in low coverage regions. Together, these tools can accurately detect allele-specific methylation genome-wide using nanopore sequence data with low coverage of about ten-fold redundancy.

Entities:  

Keywords:  Allele-specific methylation; NanoMethPhase; Nanopore sequencing; Phasing

Mesh:

Year:  2021        PMID: 33618748      PMCID: PMC7898412          DOI: 10.1186/s13059-021-02283-5

Source DB:  PubMed          Journal:  Genome Biol        ISSN: 1474-7596            Impact factor:   13.583


  48 in total

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3.  X-inactivation profile reveals extensive variability in X-linked gene expression in females.

Authors:  Laura Carrel; Huntington F Willard
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Review 4.  DNA methylome analysis using short bisulfite sequencing data.

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Journal:  Nat Methods       Date:  2012-01-30       Impact factor: 28.547

Review 5.  A catalogue of imprinted genes and parent-of-origin effects in humans and animals.

Authors:  I M Morison; A E Reeve
Journal:  Hum Mol Genet       Date:  1998       Impact factor: 6.150

6.  Landscape of X chromosome inactivation across human tissues.

Authors:  Taru Tukiainen; Alexandra-Chloé Villani; Angela Yen; Manuel A Rivas; Jamie L Marshall; Rahul Satija; Matt Aguirre; Laura Gauthier; Mark Fleharty; Andrew Kirby; Beryl B Cummings; Stephane E Castel; Konrad J Karczewski; François Aguet; Andrea Byrnes; Tuuli Lappalainen; Aviv Regev; Kristin G Ardlie; Nir Hacohen; Daniel G MacArthur
Journal:  Nature       Date:  2017-10-11       Impact factor: 49.962

7.  Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Authors:  Caitlin A Nichols; William J Gibson; Meredith S Brown; Jack A Kosmicki; John P Busanovich; Hope Wei; Laura M Urbanski; Naomi Curimjee; Ashton C Berger; Galen F Gao; Andrew D Cherniack; Sirano Dhe-Paganon; Brenton R Paolella; Rameen Beroukhim
Journal:  Nat Commun       Date:  2020-05-20       Impact factor: 14.919

8.  Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome.

Authors:  Wouter De Coster; Peter De Rijk; Arne De Roeck; Tim De Pooter; Svenn D'Hert; Mojca Strazisar; Kristel Sleegers; Christine Van Broeckhoven
Journal:  Genome Res       Date:  2019-06-11       Impact factor: 9.043

Review 9.  From squiggle to basepair: computational approaches for improving nanopore sequencing read accuracy.

Authors:  Franka J Rang; Wigard P Kloosterman; Jeroen de Ridder
Journal:  Genome Biol       Date:  2018-07-13       Impact factor: 13.583

10.  DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

Authors:  Ricky S Joshi; Paras Garg; Noah Zaitlen; Tuuli Lappalainen; Corey T Watson; Nidha Azam; Daniel Ho; Xin Li; Stylianos E Antonarakis; Han G Brunner; Karin Buiting; Sau Wai Cheung; Bradford Coffee; Thomas Eggermann; David Francis; Joep P Geraedts; Giorgio Gimelli; Samuel G Jacobson; Cedric Le Caignec; Nicole de Leeuw; Thomas Liehr; Deborah J Mackay; Stephen B Montgomery; Alistair T Pagnamenta; Peter Papenhausen; David O Robinson; Claudia Ruivenkamp; Charles Schwartz; Bernhard Steiner; David A Stevenson; Urvashi Surti; Thomas Wassink; Andrew J Sharp
Journal:  Am J Hum Genet       Date:  2016-08-25       Impact factor: 11.025

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  2 in total

1.  Whole-genome Methylation Analysis of APOBEC Enzyme-converted DNA (~5 kb) by Nanopore Sequencing.

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Journal:  Bio Protoc       Date:  2022-03-05

2.  Genome-wide detection of imprinted differentially methylated regions using nanopore sequencing.

Authors:  Vahid Akbari; Jean-Michel Garant; Kieran O'Neill; Pawan Pandoh; Richard Moore; Marco A Marra; Martin Hirst; Steven J M Jones
Journal:  Elife       Date:  2022-07-05       Impact factor: 8.713

  2 in total

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