Background Chromosome 17p13.3 contains extensive repetitive sequences and is a recognised
region of genomic instability. Haploinsufficiency of PAFAH1B1 (encoding LIS1) causes …

Third generation sequencing technologies provide the opportunity to improve genome
assemblies by generating long reads spanning most repeat sequences. However, current …

This study aimed to elucidate the observed variable phenotypic expressivity associated with
NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest cohort of patients with …

The fragile X syndrome (FXS) is caused by silencing of the fragile X mental retardation gene
(FMR1) and the absence of its product, fragile X mental retardation protein (FMRP), …

The recently introduced Oxford Nanopore MinION platform generates DNA sequence data in
real-time. This has great potential to shorten the sample-to-results time and is likely to have …

Extensively drug-resistant Klebsiella pneumoniae (XDR-KP) infections cause high mortality
and are disseminating globally. Identifying the genetic basis underpinning resistance allows …

The availability of microarray technology has led to the recent recognition of copy number
abnormalities of distal chromosome 22q11.2 that are distinct from the better‐characterized …

Background Detection of genomic inversions remains challenging. Many existing methods
primarily target inzversions with a non repetitive breakpoint, leaving inverted repeat (IR) …

Background: Microarray genome analysis is realising its promise for improving detection of
genetic abnormalities in individuals with mental retardation and congenital abnormality. …

Klebsiella quasipneumoniae subsp. similipneumoniae strain ATCC 700603, formerly
known as K. pneumoniae K6, is known for producing extended-spectrum β-lactamase (ESBL) …