The History of Modality and Mood

Auwera, Johan van der; Aguilar, Alfonso Zamorano

doi:10.1093/oxfordhb/9780199591435.013.4

Cited by 63 publications

(7 citation statements)

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“…Methods such as local realignment could solve this issue. However such programmes are currently designed to use information from all the aligned reads to correct for alignment bias around a real insertion against the reference 20 , rather than to correct insertion errors in the individual reads.…”

Section: Discussionmentioning

confidence: 99%

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

Laver

Caswell

Moore

et al. 2016

Sci Rep

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The long-read sequencers from Pacific Bioscience (PacBio) and Oxford Nanopore Technologies (ONT) offer the opportunity to phase mutations multiple kilobases apart directly from sequencing reads. In this study, we used long-range PCR with ONT and PacBio sequencing to phase two variants 9 kb apart in the RET gene. We also re-analysed data from a recent paper which had apparently successfully used ONT to phase clinically important haplotypes at the CYP2D6 and HLA loci. From these analyses, we demonstrate PCR-chimera formation during PCR amplification and reference alignment bias are pitfalls that need to be considered when attempting to phase variants using amplicon-based long-read sequencing technologies. These methodological pitfalls need to be avoided if the opportunities provided by long-read sequencers are to be fully exploited.

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Section: Discussionmentioning

confidence: 99%

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

Laver

Caswell

Moore

et al. 2016

Sci Rep

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“…The sequencing data was analysed using an approach based on the GATK best practice guidelines [15]. This involved aligning the reads to the hg19/GRCh37 human reference genome with BWA mem [16], applying Picard for duplicates removal [17], and GATK IndelRealigner for local re-alignment and running the base quality score realignment [18]. GATK haplotypecaller was used to identify variants which were annotated using Alamut batch version 1.8 (Interactive Biosoftware, Rouen, France) and variants which failed the QD2 VCF filter or had less than 5 reads supporting the variant allele were excluded.…”

Section: Gene Panel and Variant Callingmentioning

confidence: 99%

Comprehensive screening shows that mutations in the known syndromic genes are rare in individuals presenting with hyperinsulinaemic hypoglycaemia

Laver

Wakeling

Hua³

et al. 2018

Preprint

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ObjectiveHyperinsulinaemic hypoglycaemia (HH) can occur in isolation or more rarely feature as part of a syndrome. Screening for mutations in the ‘syndromic HH’ genes is guided by phenotype with genetic testing used to confirm the clinical diagnosis. As HH can be the presenting feature of a syndrome it is possible that mutations will be missed as these genes are not routinely screened in all newly diagnosed individuals. We investigated the frequency of pathogenic variants in syndromic genes in individuals with HH who had not been clinically diagnosed with a syndromic disorder at referral for genetic testing.DesignWe used genome sequencing data to assess the prevalence of mutations in syndromic HH genes in an international cohort of patients with HH of unknown genetic cause.MethodsWe undertook genome sequencing in 82 individuals with HH without a clinical diagnosis of a known syndrome at referral for genetic testing. Within this cohort we searched for the genetic aetiologies causing 20 different syndromes where HH had been reported as a feature.ResultsWe identified a pathogenic KMT2D variant in a patient with HH diagnosed at birth, confirming a genetic diagnosis of Kabuki syndrome. Clinical data received following the identification of the mutation highlighted additional features consistent with the genetic diagnosis. Pathogenic variants were not identified in the remainder of the cohort.ConclusionsPathogenic variants in the syndromic HH genes are rare but should be considered in newly diagnosed individuals as HH may be the presenting feature.

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“…Дієслова, такі як should, ought to, must, to be to, to have to, shall, need, можуть виражати зобов'язання, підкреслюючи, що дія є необхідною для виконання. У разі використання цих дієслів з негативною часткою, вони вказують на відсутність зобов'язання здійснювати дію [8].…”

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“…Дієслово must означає заборону в негативному значенні. Для того, щоб описати відсутність потреби, замість must може застосовуватися needn't [8].…”

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Модальності В Англійській Мові: Теорія Та Семантика

Перішко,

Велика,

Птуха

2023

ВНО

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The article deals with the concept of modality, which determines the degree of possibility, obligation and other semantic aspects in English. Various definitions of modality are presented. It has been found that modality is manifested at different levels of language and can be expressed through modal verbs, modal words, grammatical and intonational means. The article systematizes the types of modality, revealing the difference between the modality of reality and unreality. The study reveals different approaches to the study of modality in modern linguistics and points to its importance in understanding and analyzing the English language. The article examines the

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The History of Modality and Mood

Cited by 63 publications

References 0 publications

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

Comprehensive screening shows that mutations in the known syndromic genes are rare in individuals presenting with hyperinsulinaemic hypoglycaemia

Модальності В Англійській Мові: Теорія Та Семантика

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