Joining forces in Ochnaceae phylogenomics: a tale of two targeted sequencing probe kits.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of botany"
DOI: 10.1002/ajb2.1682
Abstract: PREMISE Both universal and family-specific targeted sequencing probe kits are becoming widely used for reconstruction of phylogenetic relationships in angiosperms. Within the pantropical Ochnaceae, we show that with careful data filtering, universal kits are equally… read more here.
Keywords: probe kits; sequencing probe; targeted sequencing; angiosperms353 data ... See more keywords
Strategies for reducing per‐sample costs in target capture sequencing for phylogenomics and population genomics in plants
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DOI: 10.1002/aps3.11337
Abstract: The reduced cost of high‐throughput sequencing and the development of gene sets with wide phylogenetic applicability has led to the rise of sequence capture methods as a plausible platform for both phylogenomics and population genomics… read more here.
Keywords: sample; genomics plants; population genomics; phylogenomics population ... See more keywords
Targeted sequencing of cancer‐related genes in nasopharyngeal carcinoma identifies mutations in the TGF‐β pathway
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DOI: 10.1002/cam4.2429
Abstract: Approximately, 25% of nasopharyngeal carcinoma (NPC) patients develop recurrent disease. NPC may involve relatively few genomic alterations compared to other cancers due to its association with Epstein‐Barr virus (EBV). We envisioned that in‐depth sequencing of… read more here.
Keywords: mutations tgf; cancer related; related genes; targeted sequencing ... See more keywords
Utilization of cytologic cell blocks for targeted sequencing of solid tumors
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DOI: 10.1002/cam4.5261
Abstract: Targeted sequencing of cytologic samples has significantly increased in recent years. With increasing numbers of clinical trials for variant specific therapeutics, validating a comprehensive assay for cytologic samples has become clinically important. read more here.
Keywords: cytologic; cytologic cell; utilization cytologic; cell blocks ... See more keywords
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders
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DOI: 10.1007/s12035-021-02377-y
Abstract: Neurodevelopmental disorders (NDDs) are a group of diseases characterized by high heterogeneity and frequently co-occurring symptoms. The mutational spectrum in patients with NDDs is largely incomplete. Here, we sequenced 547 genes from 1102 patients with… read more here.
Keywords: patients ndds; candidate; sequencing integrative; candidate genes ... See more keywords
CRISPR-based enrichment strategies for targeted sequencing.
Sign Up to like & getrecommendations! Published in 2020 at "Biotechnology advances"
DOI: 10.1016/j.biotechadv.2020.107672
Abstract: The ability to easily produce or procure sequencing data has expanded to be within the reach of most clinics and research laboratories, but the complexity of sequence analysis remains a hurdle for many scientists, and… read more here.
Keywords: strategies targeted; enrichment strategies; crispr based; based enrichment ... See more keywords
Loss-of-function variants in FSIP1 identified by targeted sequencing are associated with one particular subtype of mucosal melanoma
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DOI: 10.1016/j.gene.2020.144964
Abstract: Abstract Background Mucosal melanoma is a tumor caused by the malignant transformation of pigment-producing cells and can arise from any mucosal tissue where melanocytes are present. Due to its rarity, the mucosal melanoma subtype is… read more here.
Keywords: loss; mucosal melanoma; targeted sequencing; gene ... See more keywords
Novel susceptibility genes were found in a targeted sequencing of stroke patients with or without depression in the Chinese Han population.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of affective disorders"
DOI: 10.1016/j.jad.2019.05.023
Abstract: BACKGROUND Both stroke and depression are multi-factorial diseases, with both genetic and environmental factors likely to participate in their pathogenesis. Post stroke depression (PSD) is a common complication after stroke leading to poor functional outcome,… read more here.
Keywords: depression; susceptibility; stroke patients; targeted sequencing ... See more keywords
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
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DOI: 10.1038/gim.2016.197
Abstract: Purpose:Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making.Methods:We analyzed 121 IBMFS patients using a targeted sequencing covering 184… read more here.
Keywords: failure syndromes; patients using; targeted sequencing; marrow failure ... See more keywords
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
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DOI: 10.1038/s41467-020-18723-y
Abstract: Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD… read more here.
Keywords: large scale; scale targeted; targeted sequencing; neurodevelopmental disorders ... See more keywords
Targeted sequencing reveals expanded genetic diversity of human transfer RNAs
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DOI: 10.1080/15476286.2019.1646079
Abstract: ABSTRACT Transfer RNAs are required to translate genetic information into proteins as well as regulate other cellular processes. Nucleotide changes in tRNAs can result in loss or gain of function that impact the composition and… read more here.
Keywords: transfer; trna variation; transfer rnas; targeted sequencing ... See more keywords