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Article
Open AccessPharmacological EZH2 inhibition combined with retinoic acid treatment promotes differentiation and apoptosis in rhabdomyosarcoma cells
Rhabdomyosarcomas (RMS) are predominantly paediatric sarcomas thought to originate from muscle precursor cells due to impaired myogenic differentiation. Despite intensive treatment, 5-year survival for patient...
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Article
Open AccessA CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies
Ciliopathies are a broad range of inherited developmental and degenerative diseases associated with structural or functional defects in motile or primary non-motile cilia. There are around 200 known ciliopathy...
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Article
Open AccessComparison of Mendeliome exome capture kits for use in clinical diagnostics
Next generation sequencing has disrupted genetic testing, allowing far more scope in the tests applied. The appropriate sections of the genome to be tested can now be readily selected, from single mutations to...
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Article
Open AccessCold-induced urticarial autoinflammatory syndrome related to factor XII activation
Hereditary autoinflammatory diseases are caused by gene mutations of the innate immune pathway, e.g. nucleotide receptor protein 3 (NLRP3). Here, we report a four-generation family with cold-induced urticarial...
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Article
Gene-dense autosomal chromosomes show evidence for increased selection
Purifying selection tends to reduce nucleotide and haplotype diversity leading to increased linkage disequilibrium. However, detection of evidence for selection is difficult as the signature is confounded by w...
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Article
Open AccessLinkage disequilibrium maps for European and African populations constructed from whole genome sequence data
Quantification of linkage disequilibrium (LD) patterns in the human genome is essential for genome-wide association studies, selection signature map** and studies of recombination. Whole genome sequence (WGS...
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Article
Open AccessAutosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease
Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by mutations in the UMOD gene (ADTKD-UMOD) is considered rare and often remains unrecognised. We aimed to establish the prevalence of genetic ki...
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Article
Open AccessEvaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting
Next generation sequencing is transforming clinical medicine and genome research, providing a powerful route to establishing molecular diagnoses for genetic conditions; however, challenges remain given the vol...
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Article
Open AccessIdentification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)
Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynthesis, resulting in loss of pigment and severe visual deficits. OCA encompasses a range of subtypes with overlap...
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Article
Open AccessDeleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes
Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from the largely monogenic, syndromic forms which include clefts...
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Article
Open AccessWhole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations
An understanding of linkage disequilibrium (LD) structures in the human genome underpins much of medical genetics and provides a basis for disease gene map** and investigating biological mechanisms such as r...
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Article
Open AccessAdult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R
We report a new family with autosomal dominant inheritance of a late onset rapidly progressive leukodystrophy in which exome sequencing has revealed a novel mutation p.R782G in the Colony-Stimulating Factor 1 ...
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Open AccessErratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies
This is an Erratum to Genome Medicine 2013, 5:89, highlighting an error in Table 1 of the original article. Please see related article: http://genomemedicine.com/content/5/9/89
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Open AccessA SNP profiling panel for sample tracking in whole-exome sequencing studies
Whole-exome sequencing provides a cost-effective means to sequence protein coding regions within the genome, which are significantly enriched for etiological variants. We describe a panel of single nucleotide ...
