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  1. Article ; Online: Editorial overview: Congenital cardiovascular disease.

    Hanchard, Neil A / Mefford, Heather C

    Current opinion in genetics & development

    2022  Volume 77, Page(s) 102006

    MeSH term(s) Humans ; Cardiovascular Diseases/genetics
    Language English
    Publishing date 2022-11-23
    Publishing country England
    Document type Editorial
    ZDB-ID 1077312-5
    ISSN 1879-0380 ; 0959-437X
    ISSN (online) 1879-0380
    ISSN 0959-437X
    DOI 10.1016/j.gde.2022.102006
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3240: Show issues Location:
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  2. Article ; Online: 1000 Genomes Project phase 4: The gift that keeps on giving.

    Hanchard, Neil A / Choudhury, Ananyo

    Cell

    2022  Volume 185, Issue 18, Page(s) 3286–3289

    Abstract: In this issue of Cell, Bryska-Bishop et al. report the release of the expanded, high-depth sequencing data that characterize the fourth phase of the 1000 Genomes Project. Using extensive comparisons and benchmarks, they demonstrate how this dataset is ... ...

    Abstract In this issue of Cell, Bryska-Bishop et al. report the release of the expanded, high-depth sequencing data that characterize the fourth phase of the 1000 Genomes Project. Using extensive comparisons and benchmarks, they demonstrate how this dataset is positioned to serve as a more comprehensive and accurate resource for global genomics.
    MeSH term(s) Benchmarking ; Genome, Human ; Genomics ; Humans
    Language English
    Publishing date 2022-08-12
    Publishing country United States
    Document type Clinical Trial, Phase IV ; Journal Article
    ZDB-ID 187009-9
    ISSN 1097-4172 ; 0092-8674
    ISSN (online) 1097-4172
    ISSN 0092-8674
    DOI 10.1016/j.cell.2022.08.001
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  3. Article: 1000 Genomes Project phase 4: The gift that keeps on giving

    Hanchard, Neil A. / Choudhury, Ananyo

    Cell. 2022 Sept. 01, v. 185, no. 18

    2022  

    Abstract: In this issue of Cell, Bryska-Bishop et al. report the release of the expanded, high-depth sequencing data that characterize the fourth phase of the 1000 Genomes Project. Using extensive comparisons and benchmarks, they demonstrate how this dataset is ... ...

    Abstract In this issue of Cell, Bryska-Bishop et al. report the release of the expanded, high-depth sequencing data that characterize the fourth phase of the 1000 Genomes Project. Using extensive comparisons and benchmarks, they demonstrate how this dataset is positioned to serve as a more comprehensive and accurate resource for global genomics.
    Keywords data collection ; genome ; genomics
    Language English
    Dates of publication 2022-0901
    Size p. 3286-3289.
    Publishing place Elsevier Inc.
    Document type Article
    ZDB-ID 187009-9
    ISSN 1097-4172 ; 0092-8674
    ISSN (online) 1097-4172
    ISSN 0092-8674
    DOI 10.1016/j.cell.2022.08.001
    Database NAL-Catalogue (AGRICOLA)

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  4. Article ; Online: "Iron"ing out hemophagocytosis through PIEZO1.

    Hanchard, Neil A / Wonkam, Ambroise

    Cell

    2021  Volume 184, Issue 4, Page(s) 856–858

    Abstract: In this issue of Cell, Ma et al. reveal a mechanistic role for PIEZO1 in iron homeostasis through molecular genetic mouse studies. They also demonstrate implications for human iron overload and deficiency syndromes, susceptibility to malarial infection, ... ...

    Abstract In this issue of Cell, Ma et al. reveal a mechanistic role for PIEZO1 in iron homeostasis through molecular genetic mouse studies. They also demonstrate implications for human iron overload and deficiency syndromes, susceptibility to malarial infection, and red blood cell turnover in persons of African ancestries.
    MeSH term(s) Animals ; Erythrocytes ; Homeostasis ; Humans ; Ion Channels/genetics ; Iron ; Malaria ; Mice
    Chemical Substances Ion Channels ; PIEZO1 protein, human ; Piezo1 protein, mouse ; Iron (E1UOL152H7)
    Language English
    Publishing date 2021-02-12
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Comment
    ZDB-ID 187009-9
    ISSN 1097-4172 ; 0092-8674
    ISSN (online) 1097-4172
    ISSN 0092-8674
    DOI 10.1016/j.cell.2021.01.038
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  5. Article ; Online: Genetics for all: Tri-directional research engagement as an equitable framework for international partnerships.

    Billawala, Thalia / Taiwo, Toluwani / Hanchard, Neil A

    HGG advances

    2022  Volume 3, Issue 4, Page(s) 100140

    Abstract: Over the past 5 years, human genetics and genomics research has placed a greater emphasis on increasing diversity among research participants and study researchers as a means of expanding the reach of human genetics and the knowledge accrued by it. ... ...

    Abstract Over the past 5 years, human genetics and genomics research has placed a greater emphasis on increasing diversity among research participants and study researchers as a means of expanding the reach of human genetics and the knowledge accrued by it. Within this context, international collaborations between investigators in well-resourced research-funded countries (RFCs) and those in research-underfunded countries (RUCs) have flourished, with the goal of recruiting more geographically diverse participant pools. Past harms to communities engaged in genetics research have underscored the importance of bi-directional relational engagements, in which researchers and communities work together to ensure ethical research practices and participant involvement
    Language English
    Publishing date 2022-09-12
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2666-2477
    ISSN (online) 2666-2477
    DOI 10.1016/j.xhgg.2022.100140
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  6. Article ; Online: Tailored community engagement to address the genetics diversity gap.

    Hanchard, Neil A / Chahrour, Maria / de Vries, Jantina

    Med (New York, N.Y.)

    2022  Volume 3, Issue 6, Page(s) 369–370

    Language English
    Publishing date 2022-05-04
    Publishing country United States
    Document type Letter
    ISSN 2666-6340
    ISSN (online) 2666-6340
    DOI 10.1016/j.medj.2022.05.010
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  7. Article: A first-generation genome-wide map of correlated DNA methylation demonstrates highly coordinated and tissue-independent clustering across regulatory regions.

    Jajoo, Aarti / Hirschi, Owen / Schulze, Katharina / Guan, Yongtao / Hanchard, Neil A

    Research square

    2023  

    Abstract: Genome-wide DNA methylation studies have typically focused on quantitative assessments of CpG methylation at individual loci. Although methylation states at nearby CpG sites are known to be highly correlated, suggestive of an underlying coordinated ... ...

    Abstract Genome-wide DNA methylation studies have typically focused on quantitative assessments of CpG methylation at individual loci. Although methylation states at nearby CpG sites are known to be highly correlated, suggestive of an underlying coordinated regulatory network, the extent and consistency of inter-CpG methylation correlation across the genome, including variation between individuals, disease states, and tissues, remains unknown. Here, we leverage image conversion of correlation matrices to identify correlated methylation units (CMUs) across the genome, describe their variation across tissues, and annotate their regulatory potential using 35 public Illumina BeadChip datasets spanning more than 12,000 individuals and 26 different tissues. We identified a median of 18,125 CMUs genome-wide, occurring on all chromosomes and spanning a median of ~1 kb. Notably, 50% of CMUs had evidence of long-range correlation with other proximal CMUs. Although the size and number of CMUs varied across datasets, we observed strong intra-tissue consistency among CMUs, with those in testis encompassing those seen in most other tissues. Approximately 20% of CMUs were highly conserved across normal tissues (i.e. tissue independent), with 73 loci demonstrating strong correlation with non-adjacent CMUs on the same chromosome. These loci were enriched for CTCF and transcription factor binding sites, always found within putative TADs, and associated with the B compartment of chromosome folding. Finally, we observed significantly different, but highly consistent, patterns of CMU correlation between diseased and non-diseased states. Our first-generation, genome-wide, DNA methylation map suggests a highly coordinated CMU regulatory network that is sensitive to disruptions in its architecture.
    Language English
    Publishing date 2023-05-15
    Publishing country United States
    Document type Preprint
    DOI 10.21203/rs.3.rs-2852818/v1
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  8. Article ; Online: Biases in arginine codon usage correlate with genetic disease risk.

    Schulze, Katharina V / Hanchard, Neil A / Wangler, Michael F

    Genetics in medicine : official journal of the American College of Medical Genetics

    2020  Volume 22, Issue 8, Page(s) 1407–1412

    Abstract: Purpose: The persistence of hypermutable CGN (CGG, CGA, CGC, CGU) arginine codons at high frequency suggests the possibility of negative selective pressure at these sites and that arginine codon usage could be a predictive indicator of human disease ... ...

    Abstract Purpose: The persistence of hypermutable CGN (CGG, CGA, CGC, CGU) arginine codons at high frequency suggests the possibility of negative selective pressure at these sites and that arginine codon usage could be a predictive indicator of human disease genes.
    Methods: We analyzed arginine codons (CGN, AGG, AGA) from all canonical Ensembl protein coding gene transcripts before comparing the frequency of CGN codons between genes with and without human disease associations and with gnomAD constraint metrics.
    Results: The frequency of CGN codons among a gene's total arginine codon count was higher in genes linked to syndromic autism spectrum disorder (ASD) compared with genes not associated with ASD. A comparison of genes annotated as dominant or recessive with control genes not matching either classification revealed a progressive increase in CGN codon frequency. Moreover, CGN frequency was positively correlated with a gene's probability of loss-of-function intolerance (pLI) score and negatively correlated with observed-over-expected ratios for both loss-of-function and missense variants.
    Conclusion: Our findings indicate that genes utilizing CGN arginine codons rather than AGG or AGA are more likely to underlie single-gene disorders, particularly for dominant phenotypes, and thus constitute candidate genes for the study of human genetic disease.
    MeSH term(s) Arginine/genetics ; Autism Spectrum Disorder/genetics ; Bias ; Codon Usage ; Escherichia coli/genetics ; Humans
    Chemical Substances Arginine (94ZLA3W45F)
    Language English
    Publishing date 2020-05-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-020-0813-6
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    Zs.A 5059: Show issues Location:
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  9. Article ; Online: Five Priorities of African Genomics Research: The Next Frontier.

    Wonkam, Ambroise / Munung, Nchangwi S / Dandara, Collet / Esoh, Kevin K / Hanchard, Neil A / Landoure, Guida

    Annual review of genomics and human genetics

    2022  Volume 23, Page(s) 499–521

    Abstract: To embrace the prospects of accurately diagnosing thousands of monogenic conditions, predicting disease risks for complex traits or diseases, tailoring treatment to individuals' pharmacogenetic profiles, and potentially curing some diseases, research ... ...

    Abstract To embrace the prospects of accurately diagnosing thousands of monogenic conditions, predicting disease risks for complex traits or diseases, tailoring treatment to individuals' pharmacogenetic profiles, and potentially curing some diseases, research into African genomic variation is a scientific imperative. African genomes harbor millions of uncaptured variants accumulated over 300,000 years of modern humans' evolutionary history, with successive waves of admixture, migration, and natural selection combining with extensive ecological diversity to create a broad and exceptional genomic complexity. Harnessing African genomic complexity, therefore, will require sustained commitment and equitable collaboration from the scientific community and funding agencies. African governments must support academic public research and industrial partnerships that build the necessary genetic medicine workforce, utilize the emerging genomic big data to develop expertise in computer science and bioinformatics, and evolve national and globalgovernance frameworks that recognize the ethical implications of data-driven genomic research and empower its application in African social, cultural, economic, and religious contexts.
    MeSH term(s) Biological Evolution ; Blacks ; Computational Biology ; Genomics ; Humans ; Pharmacogenetics
    Language English
    Publishing date 2022-05-16
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2037670-4
    ISSN 1545-293X ; 1527-8204
    ISSN (online) 1545-293X
    ISSN 1527-8204
    DOI 10.1146/annurev-genom-111521-102452
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  10. Article ; Online: Promoting Pharmacogenomics in Africa: Perspectives From Variation in G6PD and Other Pharmacogenes.

    Sitabule, Blessing R / Othman, Houcemeddine / Choudhury, Ananyo / Twesigomwe, David / Hanchard, Neil A

    Clinical pharmacology and therapeutics

    2022  Volume 113, Issue 3, Page(s) 476–479

    MeSH term(s) Humans ; Pharmacogenetics ; Africa ; Genetic Variation ; Glucosephosphate Dehydrogenase Deficiency
    Language English
    Publishing date 2022-12-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Intramural
    ZDB-ID 123793-7
    ISSN 1532-6535 ; 0009-9236
    ISSN (online) 1532-6535
    ISSN 0009-9236
    DOI 10.1002/cpt.2816
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