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- The study from Wellcome Sanger Institute scientists and their collaborators discovered that serious rare disorders can be affected by combinations of common genetic variants, rather than solely individual rare variants that damage single genes.
www.sanger.ac.uk/news_item/rare-genetic-disorders-more-complex-thought/
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Sep 18, 2020 · Rare variants sequencing analysis mainly revealed have played unique roles in the genetics of complex diseases in humans due to their distinctive features, in contrast to common variants.
- Nature
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- Complex trait associations in rare diseases and impacts on ...
Overall, our study supports and expands on previous findings...
- Common genetic variants contribute to risk of rare severe ...
There are thousands of rare human disorders that are caused...
- Nature
Sep 18, 2024 · Overall, our study supports and expands on previous findings of complex trait associations in rare diseases, implicates polygenic liability as a potential mechanism underlying variable...
Sep 26, 2018 · There are thousands of rare human disorders that are caused by single deleterious, protein-coding genetic variants 1. However, patients with the same genetic defect can have different...
- Mari E. K. Niemi, Hilary C. Martin, Daniel L. Rice, Giuseppe Gallone, Scott Gordon, Martin Kelemen, ...
- 2018
Mar 30, 2017 · Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for. Advances in sequencing technology enable focused explorations on the contribution of low-frequency and rare variants to human traits.
- Lorenzo Bomba, Klaudia Walter, Nicole Soranzo, Nicole Soranzo, Nicole Soranzo
- 2017
Jun 24, 2019 · Rare single nucleotide variants (SNV), small insertion/deletion (indel) variants, and copy number variants (CNV) have been demonstrated to underlie many Mendelian conditions, leading to the expectation that undiagnosed diseases are largely ‘single-gene’ (monogenic) or ‘single-locus’ disorders [5, 6] that follow classical Mendelian modes of inher...
- Jennifer E. Posey
- jp042803@bcm.edu
- 2019
Hundreds of patients with rare diseases have been given a diagnosis for the first time, thanks to a study which involved analysing their entire genome. More than 2,000 families took part and...
Jul 7, 2022 · Here, we investigated the phenotypic effect of rare, potentially deleterious variants in genes and loci where similar variants are known to cause monogenic developmental disorders (DDs) in a large population cohort.
