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Research article

First published 2023-09-08

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report

Katarina Pelin, Lydia Sagath, Johanna Lehtonen [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2010-11

Ray: Simultaneous Assembly of Reads from a Mix of High-Throughput Sequencing Technologies

Sébastien Boisvert, François Laviolette, Jacques Corbeil

Journal of Computational Biology

Retricted access

Research article

First published 2012-06

Normal and Compound Poisson Approximations for Pattern Occurrences in NGS Reads

Zhiyuan Zhai, Gesine Reinert, Kai Song [...]

Journal of Computational Biology

Open access

Research article

First published 2022

Migrating to Long-Read Sequencing for Clinical Routine BCR-ABL1 TKI Resistance Mutation Screening

Wesley Schaal, Adam Ameur, Ulla Olsson-Strömberg [...]

Cancer Informatics

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Research article

First published 2011-03

Genovo: De Novo Assembly for Metagenomes

Jonathan Laserson, Vladimir Jojic, Daphne Koller

Journal of Computational Biology

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Research article

First published 2001-5

Characterization of HIV Type 1 tat Sequences Associated with Perinatal Transmission

Mohammad Husain, Tobias Hahn, Venkat R.K. Yedavalli [...]

AIDS Research and Human Retroviruses

Open access

Research article

First published 2020

PGcloser: Fast Parallel Gap-Closing Tool Using Long-Reads or Contigs to Fill Gaps in Genomes

Peng Lu, Jingjing Jin, Zefeng Li [...]

Evolutionary Bioinformatics

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Research article

First published 1998-10

An Analysis of a Class of DNA Sequence Reading Molecules

Wynn L. Walker, David S. Goodsell, Elliot M. Landaw

Journal of Computational Biology

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Research article

First published 2006-07

A General Coverage Theory for Shotgun DNA Sequencing

Michael C. Wendl

Journal of Computational Biology

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Research article

First published 2021-08

SVLR: Genome Structural Variant Detection Using Long-Read Sequencing Data

Wenyan Gu, Aizhong Zhou, Lusheng Wang [...]

Journal of Computational Biology

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