de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24455
Abstract: Detection of de novo variants (DNVs) is critical for studies of disease‐related variation and mutation rates. To accelerate DNV calling, we developed a graphics processing units‐based workflow. We applied our workflow to whole‐genome sequencing data… read more here.
Keywords: genomes project; cell; 1000 genomes; novo variant ... See more keywords
Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy
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DOI: 10.1007/s10072-021-05824-9
Abstract: DYNC1H1 variants are associated with broad phenotypes including Charcot-Marie-Tooth disease, spinal muscular atrophy, and mental retardation. However, DYNC1H1 variants related intractable epilepsy have not yet been described in detail so far. Herein, we describe the… read more here.
Keywords: intractable epilepsy; novel novo; whole exome; novo variant ... See more keywords
Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant
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DOI: 10.3389/fped.2022.927392
Abstract: Background The NALCN encodes a sodium ion leak channel that regulates nerve-resting conductance and excitability. NALCN variants are associated with two neurodevelopmental disorders, one is CLIFAHDD (autosomal dominant congenital contractures of the limbs and face,… read more here.
Keywords: variant nalcn; case; novo variant; chinese infant ... See more keywords
Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia
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DOI: 10.3390/ijms23158079
Abstract: Mutations in the KCNA1 gene, encoding the voltage-gated potassium channel Kv1.1, have been associated with a spectrum of neurological phenotypes, including episodic ataxia type 1 and developmental and epileptic encephalopathy. We have recently identified a… read more here.
Keywords: channel; developmental delay; kv1; kv1 channel ... See more keywords