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Genome sequencing

Massively parallel sequencing of micro-manipulated cells targeting a comprehensive panel of disease-causing genes: A comparative evaluation of upstream whole-genome amplification methods

Lieselot Deleye, Yannick Gansemans, [ ... ], Dieter Deforce

Quantitative identification of technological paradigm changes using knowledge persistence

Changbae Mun, Sejun Yoon, [ ... ], Hyunseok Park

iMapSplice: Alleviating reference bias through personalized RNA-seq alignment

Xinan Liu, James N. MacLeod, Jinze Liu

Variant calling and genotyping accuracy of ddRAD-seq: Comparison with 20X WGS in layers

Mathilde Doublet, Fabien Degalez, [ ... ], Frédéric Lecerf

Long-Range Genomic Enrichment, Sequencing, and Assembly to Determine Unknown Sequences Flanking a Known microRNA

Zhaorong Ma, Michael J. Axtell

On-Demand Indexing for Referential Compression of DNA Sequences

Fernando Alves, Vinicius Cogo, [ ... ], Alysson Bessani

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant

Maan Abdullah Albarry, Muhammad Latif, [ ... ], Sulman Basit

High Levels of Sample-to-Sample Variation Confound Data Analysis for Non-Invasive Prenatal Screening of Fetal Microdeletions

Tianjiao Chu, Suveyda Yeniterzi, [ ... ], David G. Peters

Whole genome sequencing of Neisseria meningitidis W isolates from the Czech Republic recovered in 1984–2017

Michal Honskus, Zuzana Okonji, [ ... ], Pavla Krizova

Evaluation of a commercial SARS-CoV-2 multiplex PCR genotyping assay for variant identification in resource-scarce settings

Chijioke N. Umunnakwe, Zinhle N. Makatini, [ ... ], Hugo A. Tempelman

Shiny-SoSV: A web-based performance calculator for somatic structural variant detection

Tingting Gong, Vanessa M. Hayes, Eva K. F. Chan

Awareness, understanding, and interest in personalized medicine: A cross-sectional survey study of college students

Yingke Xu, Qing Wu

Direct sequencing of measles virus complete genomes in the midst of a large-scale outbreak

Efrat Bucris, Victoria Indenbaum, [ ... ], Neta S. Zuckerman

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