Canine reference genome accuracy impacts variant calling: Lessons learned from investigating embryonic lethal variants [PDF]
, 2022 Deficient homozygosity of a variant maintained in a population suggests that the variant may be embryonic lethal. We examined whole genome sequence data from 675 canids to investigate for variants with missing homozygosity and high predicted impact ...
Dog Biomedical Variant Database, Consortium +3 more
core +1 more source
Non-coding keratin variants associate with liver fibrosis progression in patients with hemochromatosis. [PDF]
PLoS ONE, 2012 Keratins 8 and 18 (K8/K18) are intermediate filament proteins that protect the liver from various forms of injury. Exonic K8/K18 variants associate with adverse outcome in acute liver failure and with liver fibrosis progression in patients with chronic ...
Pavel Strnad +6 more
doaj +1 more source
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication
Journal of Medical Genetics, 2023 BRCA1 and BRCA2 are tumour suppressor genes that have been characterised as predisposition genes for the development of hereditary breast and ovarian cancers among other malignancies.
M. Filser +16 more
semanticscholar +1 more source
Frontiers in Endocrinology, 2022 BackgroundCongenital iodide transport defect (ITD) is an uncommon cause of dyshormonogenic congenital hypothyroidism characterized by the absence of active iodide accumulation in the thyroid gland. ITD is an autosomal recessive disorder caused by loss-of-
Romina Celeste Geysels +19 more
doaj +1 more source
False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance
Scientific Reports, 2021 A variant in the GBA1 gene is one of the most common genetic risk factors to develop Parkinson’s disease (PD). Here the serendipitous finding is reported of a polymerase dependent allelic imbalance when using next generation sequencing, potentially ...
Jonas M. den Heijer +6 more
doaj +1 more source
Benchmarking splice variant prediction algorithms using massively parallel splicing assays
bioRxiv, 2023 Background Variants that disrupt mRNA splicing account for a sizable fraction of the pathogenic burden in many genetic disorders, but identifying splice-disruptive variants (SDVs) beyond the essential splice site dinucleotides remains difficult ...
Cathy Smith, J. Kitzman
semanticscholar +1 more source
Journal of Inherited Metabolic Disease, 2022 Very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) is an autosomal recessive disease resulting from mutations in the ACADVL gene and is among the disorders tested for in newborn screening (NBS).
O. D'Annibale +5 more
semanticscholar +1 more source
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction. [PDF]
PLoS ONE, 2012 Screening for pathogenic mutations in breast and ovarian cancer genes such as BRCA1/2, CHEK2 and RAD51C is common practice for individuals from high-risk families.
Barbara Wappenschmidt +11 more
doaj +1 more source
Regionally enriched rare deleterious exonic variants in the UK and Ireland
bioRxiv, 2022 Geographic clustering of haplotypes appears to have emerged in the UK as a result of differing patterns of immigration and drift in regions that have been relatively isolated from each other.
M. Halachev +6 more
semanticscholar +1 more source
Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome
Frontiers in Genetics, 2022 Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that canonically affects the ocular, skeletal, and cardiovascular system, in which aortic tear and rupture is the leading cause of death for MFS patients.
Kui Hu +13 more
doaj +1 more source