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The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024).
J Med Genet
December 2024
Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK
Background: The NHS Jewish BRCA Testing Programme is offering germline and genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi Jewish (AJ) founder germline pathogenic variant (gPV) compared with the general population.Testing is offered via a self-referral, home-based saliva sampling pathway, supported by a genetic counsellor telephone helpline.
View Article and Find Full Text PDFA robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material.
bioRxiv
December 2024
Material Measurement Laboratory, National Institute of Standards and Technology (NIST), 100 Bureau Dr, MS8312, Gaithersburg, MD 20899, USA.
Somatic mosaicism is an important cause of disease, but mosaic and somatic variants are often challenging to detect because they exist in only a fraction of cells. To address the need for benchmarking subclonal variants in normal cell populations, we developed a benchmark containing mosaic variants in the Genome in a Bottle Consortium (GIAB) HG002 reference material DNA from a large batch of a normal lymphoblastoid cell line. First, we used a somatic variant caller with high coverage (300x) Illumina whole genome sequencing data from the Ashkenazi Jewish trio to detect variants in HG002 not detected in at least 5% of cells from the combined parental data.
View Article and Find Full Text PDFFounder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy.
BJC Rep
March 2024
Cancer Research Program, Research Institute of the McGill University Health Centre, Montreal, QC, H4A 3J1, Canada.
Background: Colorectal neoplasia is one of the most common tumors affecting Western populations.
Methods: In this study we used a custom amplicon sequencing platform and an in-house bioinformatic pipeline to study constitutional DNA from two different case series of Ashkenazi Jews undergoing colonoscopy (n = 765). The first series all had pathologically confirmed colorectal adenomas and/or carcinoma.
Fine-scale genetic structure and rare variant frequencies.
PLoS One
November 2024
Département des Sciences Fondamentales, Université du Québec à Chicoutimi, Saguenay, Québec, Canada.
In response to the current challenge in genetic studies to make new associations, we advocate for a shift toward leveraging population fine-scale structure. Our exploration brings to light distinct fine-structure within populations having undergone a founder effect such as the Ashkenazi Jews and the population of the Quebec' province. We leverage the fine-scale population structure to explore its impact on the frequency of rare variants.
View Article and Find Full Text PDFARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.
Am J Med Genet A
October 2024
Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, New York, USA.
Metachromatic leukodystrophy (MLD) is a rare neurodegenerative lysosomal storage disease resulting from bi-allelic pathogenic variants in the ARSA gene. MLD is distinguished clinically based on the age of onset into late-infantile, juvenile, and adult. The late-infantile type is the most severe phenotype presenting with hypotonia, weakness, gait abnormalities, which progresses to mental and physical decline leading to early death.
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