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Mutation detection

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants

Marina Andjelkovic, Predrag Minic, [ ... ], Sonja Pavlovic

Identification of the novel deletion-type PML-RARA mutation associated with the retinoic acid resistance in acute promyelocytic leukemia

Hikaru Hattori, Yuichi Ishikawa, [ ... ], Hitoshi Kiyoi

HIV-1C proviral DNA for detection of drug resistance mutations

Kahsay Huruy, Andargachew Mulu, Uwe Gerd Liebert, Maier Melanie

Duplex Proximity Sequencing (Pro-Seq): A method to improve DNA sequencing accuracy without the cost of molecular barcoding redundancy

Joel Pel, Wendy W. Y. Choi, [ ... ], Andre Marziali

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

Lorena Martin-Morales, Paula Rofes, [ ... ], Trinidad Caldes

Spatial statistical tools for genome-wide mutation cluster detection under a microarray probe sampling system

Bin Luo, Alanna K. Edge, [ ... ], R. J. Kulperger

Improved production of polysaccharides in Ganoderma lingzhi mycelia by plasma mutagenesis and rapid screening of mutated strains through infrared spectroscopy

Yuhan Ma, Qianqian Zhang, [ ... ], Qing Huang

Genetic heterogeneity and mutational signature in Chinese Epstein-Barr virus-positive diffuse large B-cell lymphoma

Fang Liu, Zhe Wang, [ ... ], Huilan Rao

Identification of induced mutations in hexaploid wheat genome using exome capture assay

Momina Hussain, Muhammad Atif Iqbal, Bradley J. Till, Mehboob-ur- Rahman

Diagnostic value of partial exome sequencing in developmental disorders

Laura Gieldon, Luisa Mackenroth, [ ... ], Andreas Rump

Germline and somatic mtDNA mutations in mouse aging

Hong Ma, Yeonmi Lee, [ ... ], Shoukhrat Mitalipov

BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study

Artur Kowalik, Monika Siołek, [ ... ], Stanisław Góźdź

Genotyping performance evaluation of commercially available HIV-1 drug resistance test

Audu Rosemary, Onwuamah Chika, [ ... ], Idigbe Emmanuel

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