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Johns Hopkins University Genomics Journal Club

We meet other Wednesday 4:30-5:30PM (03/11/2020) Journal club is meeting via Zoom until further notice.

Current topic: Please volunteer to present any paper related to genomics!

Past topics: Graph genomes; Long read sequencing; Repetitive DNA and transposable elements; Data Structures; Epigenetics

Date Presenter Location Paper
February 12 Nae-Chyun Chen Malone 338 https://www.biorxiv.org/content/10.1101/2019.12.20.884924v1
February 26 Bohan Ni Malone 338 https://www.nature.com/articles/s41564-019-0656-6
March 11 Sam Kovaka Zoom https://doi.org/10.1016/j.molcel.2012.10.016
March 25 Mike Alonge Zoom https://www.biorxiv.org/content/10.1101/790279v1
April 8 Daniel Baker Zoom https://www.biorxiv.org/content/10.1101/852889v1
April 22 Samantha Zarate Zoom https://www.biorxiv.org/content/10.1101/2020.03.14.992248v1
May 6 Hirak Sarkar (Guest Speaker) Zoom https://www.biorxiv.org/content/10.1101/2020.04.07.029967v1
May 20 Zoom

May 6 (Hirak Sarkar - Guest Speaker)

Terminus enables the discovery of data-driven, robust transcript groups from RNA-seq data

Hirak Sarkar, Avi Srivastava, Hector Corrada Bravo, Michael I Love, Rob Patro

doi: https://doi.org/10.1101/2020.04.07.029967 bioRxiv (2020)

April 22 (Samantha Zarate)

HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads

Sergey Nurk, Brian P. Walenz, Arang Rhie, Mitchell R. Vollger, Glennis A. Logsdon, Robert Grothe, Karen H. Miga, Evan E. Eichler, Adam M. Phillippy, Sergey Koren

doi: https://doi.org/10.1101/2020.03.14.992248 bioRxiv (2020)

April 8 (Daniel Baker)

Diversified RACE Sampling on Data Streams Applied to Metagenomic Sequence Analysis

Benjamin Coleman, Benito Geordie, Li Chou, R. A. Leo Elworth, Todd J. Treangen, Anshumali Shrivastava

doi: https://doi.org/10.1101/852889 bioRxiv (2019)

March 25 (Mike Alonge)

Massive haplotypes underlie ecotypic differentiation in sunflowers

Marco Todesco et al.

doi: https://doi.org/10.1101/790279 bioRxiv (2019)

March 11 (Sam Kovaka)

Genome-wide Methylation Profiles Reveal Quantitative Views of Human Aging Rates

Gregory Hannum et al.

doi: https://doi.org/10.1016/j.molcel.2012.10.016 Molecular Cell (2013)

February 26 (Bohan Ni)

Rapid inference of antibiotic resistance and susceptibility by genomic neighbour typing

Karel Brinda et al.

doi: https://doi.org/10.1038/s41564-019-0656-6 Nature Microbiology (2020)

February 12 (Nae-Chyun Chen)

Distance Indexing and Seed Clustering in Sequence Graphs

Xian Chang et al.

doi: https://doi.org/10.1101/2019.12.20.884924 bioRxiv (2019)

October 30 (Melanie Kirsche)

Efficient chromosome-scale haplotype-resolved assembly of human genomes

Shilpa Garg et al.

doi: https://doi.org/10.1101/810341 bioRxiv (2019)

October 16 (Taher Mun)

Technical artifact drives apparent deviation from Hardy-Weinberg equilibrium at CCR5-∆32 and other variants in gnomAD

Konrad J. Karczewski, Laura D. Gauthier, Mark J. Daly

doi: https://doi.org/10.1101/784157 bioRxiv (2019)

October 2 (Sam Kovaka)

Telomere-to-telomere assembly of a complete human X chromosome

Karen H. Miga et al.

doi: https://doi.org/10.1101/735928 bioRxiv (2019)

September 18 (Charlotte Darby)

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

Allegra A. Petti et al.

doi: https://doi.org/10.1038/s41467-019-11591-1 Nature Communications (2019)

April 25 (Charlotte Darby)

The NASA Twins Study: A multidimensional analysis of a year-long human spaceflight.

Francine E. Garrett-Bakelman et al.

doi: 10.1126/science.aau8650 Science (2019)

April 11 (Melanie Kirsche)

"Fast and accurate long-read assembly with wtdbg2." Jue Ruan and Heng Li. doi: https://doi.org/10.1101/530972 bioRxiv (2019)

"Assembly of Long Error-Prone Reads Using Repeat Graphs." Mikhail Kolmogorov, Jeffrey Yuan, Yu Lin, Pavel. A. Pevzner. doi: https://doi.org/10.1101/247148 bioRxiv (2018)

March 14 (Daniel Baker)

BagMinHash - Minwise Hashing Algorithm for Weighted Sets.

Otmar Ertl

doi: https://doi.org/10.1145/3219819.3220089 arXiv (2018)

February 13 (Taher Mun)

Locality sensitive hashing for the edit distance.

Guillaume Marcais, Dan DeBlasio, Prashant Pandey, Carl Kingsford

doi: https://doi.org/10.1101/534446 bioRxiv (2019)

November 29 (Katie Jenike)

Nanopore native RNA sequencing of a human poly(A) transcriptome.

Rachael E. Workman et al.

doi: https://doi.org/10.1101/459529 bioRxiv (2018)

November 15 (Taher Mun)

An Efficient, Scalable and Exact Representation of High-Dimensional Color Information Enabled via de Bruijn Graph Search

Fatemeh Almodaresi, Prashant Pandey, Michael Ferdman, Rob Johnson, Rob Patro

doi: https://doi.org/10.1101/464222 bioRxiv (2018)

November 1 (Sam Kovaka)

Using long-read sequencing to detect imprinted DNA methylation

Scott Gigante et al.

doi: https://doi.org/10.1101/445924 bioRxiv (2018)

October 11 (Charlotte Darby)

The MUMmer Saga

"Alignment of Whole Genomes." A.L. Delcher, S. Kasif, R.D. Fleischmann, J. Peterson, O. White, and S.L. Salzberg, Nucleic Acids Research, 27:11 (1999), 2369-2376.

September 27 (Mike Alonge)

Engineering Quantitative Trait Variation for Crop Improvement by Genome Editing

Rodríguez-Leal et al.

https://doi.org/10.1016/j.cell.2017.08.030

May 17 (Daniel Baker)

SpliceVec: Distributed feature representations for splice junction prediction

Aparajita Dutta, Tushar Dubey, Kusum Kumari Singh, Ashish Ananda

doi: 10.1016/j.compbiolchem.2018.03.009 Computational Biology and Chemistry (2018)

May 3 (Sam Kovaka)

Analysis of RNA base modification and structural rearrangement by single-molecule real-time detection of reverse transcription

Igor Vilfan et al.

doi: 10.1186/1477-3155-11-8 J Nanobiotechnology (2013)

April 18 (Charlotte Darby)

The Key Role of Epigenetics in Human Disease Prevention and Mitigation

Andrew P. Feinberg

doi: 10.1056/NEJMra1402513 New England Journal of Medicine (2018)

April 5 (Yunfan Fan)

Metagenomic binning and association of plasmids with bacterial host genomes using DNA methylation

John Beaulaurier et al.

doi: 10.1038/nbt.4037 Nature Biotechnology (2018)

February 22 (Mike Alonge)

Loss of Karma transposon methylation underlies the mantled somaclonal variant of oil palm

Meilina Ong-Abdullah et al.

doi: 10.1038/nature15365 Nature (2015)

February 22 (Daniel Baker)

Mantis: A Fast, Small, and Exact Large-Scale Sequence Search Index
Prashant Pandey, Fatemeh Almodaresi, Michael A. Bender, Michael Ferdman, Rob Johnson, Rob Patro
doi: 10.1101/217372 bioRxiv (2017)

February 15 (Taher Mun)

A General-Purpose Counting Filter: Making Every Bit Count
Prashant Pandey, Michael A. Bender, Rob Johnson, Rob Patro
doi: 10.1145/3035918.3035963 SIGMOD Proceedings (2017)

November 28 (Sam Kovaka)

Landscape of Somatic Retrotransposition in Human Cancers

Eunjung Lee et al.

doi: 10.1126/science.1222077 Science (2012)

November 16 (Mike Alonge)

The B73 Maize Genome: Complexity, Diversity, and Dynamics
Patrick S. Schnable et al.
doi: 10.1126/science.1178534 Science (2009)

Improved maize reference genome with single-molecule technologies
Yinping Jiao et al.
doi: 10.1038/nature22971 Nature (2017)

October 12 (Yunfan Fan)

Linear Assembly of a Human Y Centromere using Nanopore Long Reads

Miten Jain, Hugh E. Olsen, Daniel J. Turner, David Stoddart, Kira V. Bulazel, Benedict Paten, David Haussler, Huntington Willard, Mark Akeson, Karen H. Miga

doi: 10.1101/170373 bioRxiv (2017)

October 5 (Charlotte Darby)

Coming of age: ten years of next-generation sequencing technologies

Sara Goodwin, John D. McPherson, W. Richard McCombie

doi:10.1038/nrg.2016.49 Nature Reviews Genetics (2016)

August 17 (Taher Mun)

Minimap2: fast pairwise alignment for long DNA sequences

Heng Li

arXiv:1708.01492 arXiv (2017)

August 10 (Rhyker Ranallo-Benavidez)

Nonhybrid, finished microbial genome assemblies from long-read smrt sequencing data

Chen-Shan Chin, David H Alexander, Patrick Marks, Aaron A Klammer, James Drake, Cheryl Heiner, Alicia Clum, Alex Copeland, John Huddleston, Evan E Eichler, Stephen W Turner, Jonas Korlach

DOI http://doi.org/10.1038/nmeth.2474 Nature Meethods (2013)

August 3 (Charlotte Darby)

Direct determination of diploid genome sequences

Neil I Weisenfeld, Vijay Kumar, Preyas Shah, Deanna M Church, David B Jaffe

DOI http://doi.org/10.1101/gr.214874.116 Genome Research (2017)

July 27 (Sam Kovaka)

BasecRAWller: Streaming Nanopore Basecalling Directly from Raw Signal

Marcus Stoiber, James Brown

Paper http://www.biorxiv.org/content/biorxiv/early/2017/05/01/133058.full.pdf BioRxiv (2017)

July 20 (Yunfan Fan)

A complete bacterial genome assembled de novo using only nanopore sequencing data

Nicholas J Loman, Joshua Quick, Jared T Simpson

DOI http://doi.org/10.1038/nmeth.3444 Nature Methods (2015)

July 13 (Taher Mun)

De Novo Repeat Classification and Fragment Assembly

Paul A. Pevzner, Haixu Tang, Glenn Tesler

DOI http://doi.org/10.1101/gr.2395204 Genome Research (2004)

June 29 (Rachel Sherman)

Succinct Colored De Bruijn Graphs

Martin D. Muggli, Alexander Bowe, Noelle R. Noyes, Paul Morley, Keith Belk, Robert Raymond, Travis Gagie, Simon J. Puglisi, Christina Boucher

DOI https://doi.org/10.1093/bioinformatics/btx067 Bioinformatics (2017)

Super helpful blog post: http://alexbowe.com/succinct-debruijn-graphs/

June 15 (Sam Kovaka)

A new strategy to reduce allelic bias in RNA-Seq readmapping

Ravi Vijaya Satya, Nela Zavaljevski, Jaques Reifman

DOI https://doi.org/10.1093/nar/gks425 Nucleic Acids Research (2012)

June 8 (Rhyker Ranallo-Benavidez)

WASP: allele-specific software for robust molecular quantitative trait locus discovery.

Bryce van de Geijn, Graham McVicker, Yoav Gilad, Jonathan K. Pritchard

DOI https://doi.org/10.1038/nmeth.3582 Nature Methods (2015)

June 1 (Charlotte Darby)

AlleleSeq: analysis of allele‐specific expression and binding in a network framework

Joel Rozowsky, Alexej Abyzov, Jing Wang, Pedro Alves, Debasish Raha, Arif Harmanci, Jing Leng, Robert Bjornson, Yong Kong, Naoki Kitabayashi, Nitin Bhardwaj, Mark Rubin, Michael Snyder, Mark Gerstein

DOI https://doi.org/10.1038/msb.2011.54 Molecular Systems Biology (2011)

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