Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing

Nanopore Sequencing: A Survey

A single molecule of Deoxyribonucleic acid (DNA) is being sequenced by using an innovative concept of Nanopore. The orientation of nanopore define the channel of ions through the pore comes into contact with nucleotide, the permutation and the transition kinematics of each molecule of DNA. The divergence of electrical signal observed when the four chemical bases adenine (A), guanine (G), cytosi...

Balanced Chromosomal Rearrangement in Recurrent Spontaneous Abortions: A Case Report

One of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. We report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. Chromosomal studies were performed on the basis of G-banding technique at high resolution and revealed 46, XX, t (16 6) (p12 q26) and 46, X...

Rapid resistome mapping using nanopore sequencing

The emergence of antibiotic resistance in human pathogens has become a major threat to modern medicine. The outcome of antibiotic treatment can be affected by the composition of the gut. Accordingly, knowledge of the gut resistome composition could enable more effective and individualized treatment of bacterial infections. Yet, rapid workflows for resistome characterization are lacking. To addr...

Carrier Determination in a Hemophilia B Family Using Single Strand Conformation Polymorphism (SSCP) and Sequencing

Forensic SNP Genotyping using Nanopore MinION Sequencing

One of the latest developments in next generation sequencing is the Oxford Nanopore Technologies' (ONT) MinION nanopore sequencer. We studied the applicability of this system to perform forensic genotyping of the forensic female DNA standard 9947 A using the 52 SNP-plex assay developed by the SNPforID consortium. All but one of the loci were correctly genotyped. Several SNP loci were identified...