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  1. Article ; Online: Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.

    Shovlin, Claire L / Almaghlouth, Fatma I / Alsafi, Ali / Coote, Nicola / Rennie, Catherine / Wallace, Gillian Mf / Govani, Fatima S / Research Consortium, Genomics England

    Journal of medical genetics

    2024  Volume 61, Issue 2, Page(s) 182–185

    MeSH term(s) Humans ; Telangiectasia, Hereditary Hemorrhagic/diagnosis ; Telangiectasia, Hereditary Hemorrhagic/genetics ; Mutation ; Phenotype ; Whole Genome Sequencing
    Language English
    Publishing date 2024-01-19
    Publishing country England
    Document type Journal Article
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg-2023-109195
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 177: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article: VAMP2

    Bogue, Danielle / Ryan, Gavin / Wassmer, Evangeline / Research Consortium, Genomics England / Naik, Swati

    Molecular syndromology

    2023  Volume 14, Issue 5, Page(s) 449–456

    Abstract: Introduction: VAMP2: Case presentation: A 15-month-old girl presented with early onset hypotonia, global developmental delay, learning difficulties, microcephaly, nystagmus, strabismus, and stereotypies. Later, she developed a sleep disorder, ... ...

    Abstract Introduction: VAMP2
    Case presentation: A 15-month-old girl presented with early onset hypotonia, global developmental delay, learning difficulties, microcephaly, nystagmus, strabismus, and stereotypies. Later, she developed a sleep disorder, challenging behaviour with self-injury, and scoliosis. Gene agnostic analysis of whole genome sequencing data identified a novel de novo heterozygous missense variant c.197G>C (p.Arg66Pro) in the
    Discussion: This is the fourth report describing
    Language English
    Publishing date 2023-06-01
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2546218-0
    ISSN 1661-8777 ; 1661-8769
    ISSN (online) 1661-8777
    ISSN 1661-8769
    DOI 10.1159/000530150
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Risk-conferring

    Vakrinou, Angeliki / Bellampalli, Ravishankara / Gulcebi, Medine I / Martins Custodio, Helena / Research Consortium, Genomics England / Balestrini, Simona / Sisodiya, Sanjay M

    Journal of neurology, neurosurgery, and psychiatry

    2023  Volume 94, Issue 11, Page(s) 887–892

    Abstract: Background: Whole genome sequencing is increasingly used in healthcare, particularly for diagnostics. However, its clinically multifaceted potential for individually customised diagnostic and therapeutic care remains largely unexploited. We used ... ...

    Abstract Background: Whole genome sequencing is increasingly used in healthcare, particularly for diagnostics. However, its clinically multifaceted potential for individually customised diagnostic and therapeutic care remains largely unexploited. We used existing whole genome sequencing data to screen for pharmacogenomic risk factors related to antiseizure medication-induced cutaneous adverse drug reactions (cADRs), such as human leucocyte antigen
    Methods: Genotyping results, generated from the Genomics England UK 100 000 Genomes Project primarily for identification of disease-causing variants, were used to additionally screen for relevant
    Results: 1043 people with epilepsy were included. Four
    Conclusions: Comprehensive utilisation of genetic data spreads beyond the search for causal variants alone and can be extended to additional clinical benefits such as identifying pharmacogenomic biomarkers, which can guide pharmacotherapy for genetically-susceptible individuals.
    Language English
    Publishing date 2023-06-26
    Publishing country England
    Document type Journal Article
    ZDB-ID 3087-9
    ISSN 1468-330X ; 0022-3050
    ISSN (online) 1468-330X
    ISSN 0022-3050
    DOI 10.1136/jnnp-2023-331419
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ui II Zs.93: Show issues Location:
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    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  4. Article: SARS-CoV-2 Susceptibility and

    Vadgama, Nirmal / Kreymerman, Alexander / Campbell, Jackie / Shamardina, Olga / Brugger, Christiane / Research Consortium, Genomics England / Deaconescu, Alexandra M / Lee, Richard T / Penkett, Christopher J / Gifford, Casey A / Mercola, Mark / Nasir, Jamal / Karakikes, Ioannis

    Frontiers in genetics

    2022  Volume 13, Page(s) 888025

    Abstract: There is considerable variability in the susceptibility and progression for COVID-19 and it appears to be strongly correlated with age, gender, ethnicity and pre-existing health conditions. However, to our knowledge, cohort studies of COVID-19 in ... ...

    Abstract There is considerable variability in the susceptibility and progression for COVID-19 and it appears to be strongly correlated with age, gender, ethnicity and pre-existing health conditions. However, to our knowledge, cohort studies of COVID-19 in clinically vulnerable groups are lacking. Host genetics has also emerged as a major risk factor for COVID-19, and variation in the ACE2 receptor, which facilitates entry of the SARS-CoV-2 virus into the cell, has become a major focus of attention. Thus, we interrogated an ethnically diverse cohort of National Health Service (NHS) patients in the United Kingdom (United Kingdom) to assess the association between variants in the
    Language English
    Publishing date 2022-04-27
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2022.888025
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.

    Jacobsen, Julius O B / Kelly, Catherine / Cipriani, Valentina / Research Consortium, Genomics England / Mungall, Christopher J / Reese, Justin / Danis, Daniel / Robinson, Peter N / Smedley, Damian

    Human mutation

    2022  Volume 43, Issue 8, Page(s) 1071–1081

    Abstract: Rare disease diagnostics and disease gene discovery have been revolutionized by whole-exome and genome sequencing but identifying the causative variant(s) from the millions in each individual remains challenging. The use of deep phenotyping of patients ... ...

    Abstract Rare disease diagnostics and disease gene discovery have been revolutionized by whole-exome and genome sequencing but identifying the causative variant(s) from the millions in each individual remains challenging. The use of deep phenotyping of patients and reference genotype-phenotype knowledge, alongside variant data such as allele frequency, segregation, and predicted pathogenicity, has proved an effective strategy to tackle this issue. Here we review the numerous tools that have been developed to automate this approach and demonstrate the power of such an approach on several thousand diagnosed cases from the 100,000 Genomes Project. Finally, we discuss the challenges that need to be overcome if we are going to improve detection rates and help the majority of patients that still remain without a molecular diagnosis after state-of-the-art genomic interpretation.
    MeSH term(s) Exome/genetics ; Genomics ; Humans ; Phenotype ; Rare Diseases/diagnosis ; Rare Diseases/genetics ; Exome Sequencing
    Language English
    Publishing date 2022-04-27
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.24380
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3586: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  6. Article ; Online: Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

    Yngvadottir, Bryndis / Andreou, Avgi / Bassaganyas, Laia / Larionov, Alexey / Cornish, Alex J / Chubb, Daniel / Saunders, Charlie N / Smith, Philip S / Zhang, Huairen / Cole, Yasemin / Research Consortium, Genomics England / Larkin, James / Browning, Lisa / Turajlic, Samra / Litchfield, Kevin / Houlston, Richard S / Maher, Eamonn R

    Human molecular genetics

    2022  Volume 31, Issue 17, Page(s) 3001–3011

    Abstract: Renal cell carcinoma (RCC) occurs in a number of cancer predisposition syndromes, but the genetic architecture of susceptibility to RCC is not well defined. We investigated the frequency of pathogenic and likely pathogenic (P/LP) germline variants in ... ...

    Abstract Renal cell carcinoma (RCC) occurs in a number of cancer predisposition syndromes, but the genetic architecture of susceptibility to RCC is not well defined. We investigated the frequency of pathogenic and likely pathogenic (P/LP) germline variants in cancer susceptibility genes (CSGs) within a large series of unselected RCC participants. Whole-genome sequencing data on 1336 RCC participants and 5834 controls recruited to the UK 100 000 Genomes Project, a nationwide multicentre study, was analyzed to identify rare P/LP short variants (single nucleotide variants and insertions/deletions ranging from 1 to 50 base pairs) and structural variants in 121 CSGs. Among 1336 RCC participants [mean: 61.3 years (±12 SD), range: 13-88 years; 64% male], 85 participants [6.4%; 95% CI (5.1, 7.8)] had one or more P/LP germline variant in a wider range of CSGs than previously recognized. A further 64 intragenic variants in CSGs previously associated with RCC were classified as a variant of uncertain significance (VUS) (24 'hot VUSs') and were considered to be of potential clinical relevance as further evaluation might results in their reclassification. Most patients with P variants in well-established CSGs known to predispose to renal cell carcinoma (RCC-CSGs) were aged <50 years. Burden test analysis for filtered variants in CSGs demonstrated a significant excess of CHEK2 variants in European RCC participants compared with the healthy European controls (P = 0.0019). Approximately, 6% of the patients with RCC unselected for family history have a germline variant requiring additional follow-up analysis. To improve diagnostic yield, we suggest expanding the panel of RCC-CSGs tested to include CHEK2 and all SDHx subunits and raising the eligibility criteria for age-based testing.
    MeSH term(s) Carcinoma, Renal Cell/genetics ; Female ; Genetic Predisposition to Disease ; Germ Cells ; Germ-Line Mutation/genetics ; Humans ; Kidney Neoplasms/genetics ; Male
    Language English
    Publishing date 2022-04-19
    Publishing country England
    Document type Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108742-0
    ISSN 1460-2083 ; 0964-6906
    ISSN (online) 1460-2083
    ISSN 0964-6906
    DOI 10.1093/hmg/ddac089
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    Zs.A 3469: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  7. Article ; Online: Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.

    Hay, Eleanor / Henderson, Robert H / Mansour, Sahar / Deshpande, Charu / Jones, Rachel / Nutan, Savita / Mankad, Kshitij / Young, Rodrigo M / Moosajee, Mariya / Research Consortium, Genomics England / Arno, Gavin

    Clinical genetics

    2020  Volume 98, Issue 2, Page(s) 191–197

    Abstract: Structural eye disorders are increasingly recognised as having a genetic basis, although current genetic testing is limited in its success. De novo missense variants in WDR37 are a recently described cause of a multisystemic syndromic disorder featuring ... ...

    Abstract Structural eye disorders are increasingly recognised as having a genetic basis, although current genetic testing is limited in its success. De novo missense variants in WDR37 are a recently described cause of a multisystemic syndromic disorder featuring ocular coloboma. This study characterises the phenotypic spectrum of this disorder and reports 2 de novo heterozygous variants (p.Thr115Ile, p.Ser119Tyr) in three unrelated Caucasian individuals. All had a clinical phenotype consisting of bilateral iris and retinal coloboma, developmental delay and additional, variable multisystem features. The variants fall within a highly conserved region upstream of the WD-repeat domains, within an apparent mutation cluster. Consistent with the literature, intellectual disability, structural eye disorders, epilepsy, congenital heart disease, genitorenal anomalies and dysmorphic facial features were observed. In addition, a broader developmental profile is reported with a more specific musculoskeletal phenotype described in association with the novel variant (p.Thr115Ile). We further expand the phenotypic spectrum of WDR37-related disorders to include those with milder developmental delay and strengthen the association of ocular coloboma and musculoskeletal features. We promote the inclusion of WDR37 on gene panels for intellectual disability, epilepsy and structural eye disorders.
    Language English
    Publishing date 2020-08-25
    Publishing country Denmark
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.13795
    Database MEDical Literature Analysis and Retrieval System OnLINE

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