diff --git a/browser/src/FederationPage.tsx b/browser/src/FederationPage.tsx index 9e3a18604..df71c2ec0 100644 --- a/browser/src/FederationPage.tsx +++ b/browser/src/FederationPage.tsx @@ -11,7 +11,7 @@ import CanadaGnomadLogo from '../about/federation/CanadaGnomadLogo.png' // @ts-ignore - TS2307 Cannot fine module ... or its corresponding type declarations. import ChinaGnomadLogo from '../about/federation/ChinaGnomadLogo.png' // @ts-ignore - TS2307 Cannot fine module ... or its corresponding type declarations. -import EuropeanGenomePhoneArchiveLogo from '../about/federation/EuropeanGenomePhenomeArchiveLogo.png' +import EuropeanGenomePhenomeArchiveLogo from '../about/federation/EuropeanGenomePhenomeArchiveLogo.png' // @ts-ignore - TS2307 Cannot fine module ... or its corresponding type declarations. import InstituteForGenomicsStatisticsAndBioinformaticsLogo from '../about/federation/InsituteForGenomicsStatisticsAndBioinformaticsLogo.png' // @ts-ignore - TS2307 Cannot fine module ... or its corresponding type declarations. @@ -214,17 +214,29 @@ export default () => ( - - - - + + + + - - - + + + diff --git a/browser/src/PublicationsPage.tsx b/browser/src/PublicationsPage.tsx index 5697f2e19..dd78c2b7d 100644 --- a/browser/src/PublicationsPage.tsx +++ b/browser/src/PublicationsPage.tsx @@ -10,6 +10,66 @@ const Citation = styled.cite` line-height: 1.4; ` +type PaperCitationProps = { + prefix?: string + authorList: string + title: string + journal: string + issue?: string + pages?: string + year: string + doiLink?: string + citationDownloadLink?: string + pmid?: string + pmcid?: string +} + +const PaperCitation = ({ + prefix, + authorList, + title, + journal, + issue, + pages, + year, + doiLink, + citationDownloadLink, + pmid, + pmcid, +}: PaperCitationProps) => { + return ( + // @ts-expect-error + + + {prefix && ( + <> + {prefix}:{' '} + + )} + <>{`${authorList} ${title} `} + {journal} + <>{`. ${issue ? `${issue}, ` : ''}${pages || ''} (${year}).`} + <> + {doiLink && ( + + {/* @ts-expect-error */} + {doiLink}{' '} + + )} + {pmid && <>PMID: {pmid}} + {pmcid && PMCID: {pmcid}} + + {citationDownloadLink && ( +
+ {/* @ts-expect-error */} + Download citation{' '} +
+ )} + + + ) +} + export default () => ( @@ -28,28 +88,24 @@ export default () => ( Current flagship paper (v3): {/* @ts-expect-error */} - {/* @ts-expect-error */} - - - Chen, S.*, Francioli, L. C.*, Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., - Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., Poterba, T., Wilson, M. W., - Tarasova, Y., Phu, W., Grant, R., Yohannes, M. T., Koenig, Z., Farjoun, Y., Banks, E., - Donnelly, S., Gabriel, S., Gupta, N., Ferriera, S., Tolonen, C., Novod, S., Bergelson, - L., Roazen, D., Ruano-Rubio, V., Covarrubias, M., Llanwarne, C., Petrillo, N., Wade, G., - Jeandet, T., Munshi, R., Tibbetts, K., Genome Aggregation Database (gnomAD) Consortium, - O’Donnell-Luria, A., Solomonson, M., Seed, C., Martin, A. R., Talkowski, M. E., Rehm, H. - L., Daly, M. J., Tiao, G., Neale, B. M.†, MacArthur, D. G.† & Karczewski, K. J. A - genomic mutational constraint map using variation in 76,156 human genomes{' '} - Nature 625, 92–100 (2024). {/* @ts-expect-error */} - - https://doi.org/10.1038/s41586-023-06045-0 - {' '} - {/* @ts-expect-error */} - - Download citation - - - + * contributed equally
† contributed equally @@ -58,196 +114,292 @@ export default () => ( Previous flagship papers: {/* @ts-expect-error */} - {/* @ts-expect-error */} - - v2:{' '} - - Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., - Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., Gauthier, L. D., Brand, - H., Solomonson, M., Watts, N. A., Rhodes, D., Singer-Berk, M., England, E. M., Seaby, E. - G., Kosmicki, J. A., … MacArthur, D. G. The mutational constraint spectrum quantified - from variation in 141,456 humans. Nature 581, 434–443 (2020).{' '} - {/* @ts-expect-error */} - - https://doi.org/10.1038/s41586-020-2308-7 - {' '} - {/* @ts-expect-error */} - - Download citation - - - - {/* @ts-expect-error */} - - ExAC:{' '} - - Lek, M., Karczewski, K. J.*, Minikel, E. V.*, Samocha, K. E.*, Banks, E., Fennell, T., - O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., Cummings, B. B., Tukiainen, T., - Birnbaum, D. P., Kosmicki, J. A., Duncan, L. E., Estrada, K., Zhao, F., Zou, J., - Pierce-Hoffman, E., … Daly, M. J., MacArthur, D. G. & Exome Aggregation Consortium. - Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, - 285–291 (2016). {/* @ts-expect-error */} - - https://doi.org/10.1038/nature19057 - {' '} - {/* @ts-expect-error */} - - Download citation - - - + + * contributed equally

- Remaining publications:{/* @ts-expect-error */} + Remaining publications: + {/* @ts-expect-error */} - {/* @ts-expect-error */} - - - Guo, M. H.†, Francioli, L. C.†, Stenton, S. L., Goodrich, J. K., Watts, N. A., + + + - https://doi.org/10.1038/s41588-023-01608-3 - - - - {/* @ts-expect-error */} - - - Gudmundsson, S., Singer-Berk, M., Watts, N. A., Phu, W., Goodrich, J. K., Solomonson, - M., Genome Aggregation Database (gnomAD) Consortium, Rehm, H. L., MacArthur, D. G., - O’Donnell-Luria, A. Variant interpretation using population databases: Lessons from - gnomAD. Human Mutation 1-19 (2021). {/* @ts-expect-error */} - - https://doi.org/10.1002/humu.24309 - - - - {/* @ts-expect-error */} - - - Laricchia, K. M.*, Lake, N. J.*, Watts, N. A., Shand, M., Haessly, A., Gauthier, L. D., + O’Donnell-Luria, A., Karczewski, K., MacArthur, D. G., Samocha, K. E." + title="Inferring compound + heterozygosity from large-scale exome sequencing data." + journal="Nature Genetics" + issue="56" + pages="152-161" + year="2024" + doiLink="https://doi.org/10.1038/s41588-023-01608-3" + pmid="38057443" + pmcid="PMC10872287" + /> + + + + + + + + + - https://doi.org/10.1101/gr.276013.121 - - - - {/* @ts-expect-error */} - - - Collins, R. L.*, Brand, H.*, Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., - Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., Watts, N. A., Solomonson, M., - O’Donnell-Luria, A., Baumann, A., Munshi, R., Walker, M., Whelan, C., Huang, Y., - Brookings, T., … Talkowski, M. E. A structural variation reference for medical and - population genetics. Nature 581, 444–451 (2020). {/* @ts-expect-error */} - - https://doi.org/10.1038/s41586-020-2287-8 - - - - {/* @ts-expect-error */} - - - Cummings, B. B., Karczewski, K. J., Kosmicki, J. A., Seaby, E. G., Watts, N. A., - Singer-Berk, M., Mudge, J. M., Karjalainen, J., Kyle Satterstrom, F., O’Donnell-Luria, - A., Poterba, T., Seed, C., Solomonson, M., Alföldi, J., The Genome Aggregation Database - Production Team, The Genome Aggregation Database Consortium, Daly, M. J., & MacArthur, - D. G. Transcript expression-aware annotation improves rare variant interpretation.{' '} - Nature 581, 452–458 (2020). {/* @ts-expect-error */} - - https://doi.org/10.1038/s41586-020-2329-2 - - - - {/* @ts-expect-error */} - - - Minikel, E. V., Karczewski, K. J., Martin, H. C., Cummings, B. B., Whiffin, N., Rhodes, - D., Alföldi, J., Trembath, R. C., van Heel, D. A., Daly, M. J., Genome Aggregation - Database Production Team, Genome Aggregation Database Consortium, Schreiber, S. L., & - MacArthur, D. G. Evaluating potential drug targets through human loss-of-function - genetic variation. Nature 581, 459–464 (2020). {/* @ts-expect-error */} - - https://doi.org/10.1038/s41586-020-2267-z - - - - {/* @ts-expect-error */} - - - Wang, Q., Pierce-Hoffman, E., Cummings, B. B., Karczewski, K. J., Alföldi, J., - Francioli, L. C., Gauthier, L. D., Hill, A. J., O’Donnell-Luria, A. H., Genome - Aggregation Database (gnomAD) Production Team, Genome Aggregation Database (gnomAD) - Consortium, & MacArthur, D. G. Landscape of multi-nucleotide variants in 125,748 human - exomes and 15,708 genomes. Nature Communications 11, 2539 (2020).{' '} - {/* @ts-expect-error */} - - https://doi.org/10.1038/s41467-019-12438-5 - - - - {/* @ts-expect-error */} - - - Whiffin, N.*, Armean, I. M.*, Kleinman, A.*, Marshall, J. L., Minikel, E. V., Goodrich, - J. K., Quaife, N. M., Cole, J. B., Wang, Q., Karczewski, K. J., Cummings, B. B., - Francioli, L., Laricchia, K., Guan, A., Alipanahi, B., Morrison, P., Baptista, M. A. S., - Merchant, K. M., Genome Aggregation Database Production Team, … Cannon, P.†, MacArthur, - D. G.† The effect of LRRK2 loss-of-function variants in humans. Nature Medicine{' '} - (2020). {/* @ts-expect-error */} - - https://doi.org/10.1038/s41591-020-0893-5 - - - - {/* @ts-expect-error */} - - - Whiffin, N., Karczewski, K. J., Zhang, X., Chothani, S., Smith, M. J., Gareth Evans, D., + Calvo, S. E.†" + title="Mitochondrial DNA variation across 56,434 individuals in gnomAD." + journal="Genome Research" + issue="32" + pages="569-582" + year="2022" + doiLink="https://doi.org/10.1101/gr.276013.121" + pmid="35074858" + /> + + - https://doi.org/10.1038/s41467-019-10717-9 - - - - {/* @ts-expect-error */} - - - Karczewski, K. J., Gauthier, L. D., & Daly, M. J. Technical artifact drives apparent - deviation from Hardy-Weinberg equilibrium at CCR5-∆32 and other variants in gnomAD{' '} - bioRxiv (p. 784157). {/* @ts-expect-error */} - - https://doi.org/10.1101/784157 - - - - {/* @ts-expect-error */} - - - Karczewski, K. J., Weisburd, B., Thomas, B., Solomonson, M., Ruderfer, D. M., Kavanagh, + G.†, & Ware, J. S.†" + title="Characterising the loss-of-function impact of 5’ untranslated region + variants in 15,708 individuals." + journal="Nature Communications" + issue="11" + pages="2523" + year="2020" + doiLink="https://doi.org/10.1038/s41467-019-10717-9" + pmid="32461616" + /> + + + + + + - https://doi.org/10.1093/nar/gkw971 - - - + Aggregation Consortium, Daly, M. J., MacArthur, D. G." + title="The ExAC browser: displaying + reference data information from over 60000 exomes." + journal="Nucleic Acids Research" + issue="Volume 45, Issue D1" + pages="D840-D845" + year="2017" + doiLink="https://doi.org/10.1093/nar/gkw971" + pmid="27899611" + pmcid="PMC5210650" + /> * contributed equally
† contributed equally diff --git a/browser/src/__snapshots__/FederationPage.spec.tsx.snap b/browser/src/__snapshots__/FederationPage.spec.tsx.snap index 3cd26398a..06a2a2f46 100644 --- a/browser/src/__snapshots__/FederationPage.spec.tsx.snap +++ b/browser/src/__snapshots__/FederationPage.spec.tsx.snap @@ -549,22 +549,22 @@ exports[`Federation Page has no unexpected changes 1`] = ` className="c9" > @@ -577,17 +577,17 @@ exports[`Federation Page has no unexpected changes 1`] = ` className="c9" > diff --git a/browser/src/__snapshots__/PublicationsPage.spec.tsx.snap b/browser/src/__snapshots__/PublicationsPage.spec.tsx.snap index 3bc1a45eb..e70f41bc6 100644 --- a/browser/src/__snapshots__/PublicationsPage.spec.tsx.snap +++ b/browser/src/__snapshots__/PublicationsPage.spec.tsx.snap @@ -138,29 +138,36 @@ exports[`Publications Page has no unexpected changes 1`] = ` - Chen, S.*, Francioli, L. C.*, Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., Poterba, T., Wilson, M. W., Tarasova, Y., Phu, W., Grant, R., Yohannes, M. T., Koenig, Z., Farjoun, Y., Banks, E., Donnelly, S., Gabriel, S., Gupta, N., Ferriera, S., Tolonen, C., Novod, S., Bergelson, L., Roazen, D., Ruano-Rubio, V., Covarrubias, M., Llanwarne, C., Petrillo, N., Wade, G., Jeandet, T., Munshi, R., Tibbetts, K., Genome Aggregation Database (gnomAD) Consortium, O’Donnell-Luria, A., Solomonson, M., Seed, C., Martin, A. R., Talkowski, M. E., Rehm, H. L., Daly, M. J., Tiao, G., Neale, B. M.†, MacArthur, D. G.† & Karczewski, K. J. A genomic mutational constraint map using variation in 76,156 human genomes - + Chen, S.*, Francioli, L. C.*, Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., Poterba, T., Wilson, M. W., Tarasova, Y., Phu, W., Grant, R., Yohannes, M. T., Koenig, Z., Farjoun, Y., Banks, E., Donnelly, S., Gabriel, S., Gupta, N., Ferriera, S., Tolonen, C., Novod, S., Bergelson, L., Roazen, D., Ruano-Rubio, V., Covarrubias, M., Llanwarne, C., Petrillo, N., Wade, G., Jeandet, T., Munshi, R., Tibbetts, K., Genome Aggregation Database (gnomAD) Consortium, O’Donnell-Luria, A., Solomonson, M., Seed, C., Martin, A. R., Talkowski, M. E., Rehm, H. L., Daly, M. J., Tiao, G., Neale, B. M.†, MacArthur, D. G.† & Karczewski, K. J. A genomic mutational constraint map using variation in 76,156 human genomes. Nature - 625, 92–100 (2024). - - https://doi.org/10.1038/s41586-023-06045-0 - - - - Download citation - + . 625, 92-100 (2024). + + + + https://doi.org/10.1038/s41586-023-06045-0 + + + + PMID: + 38057664 +

+ + Download citation + + +
* contributed equally @@ -177,72 +184,87 @@ exports[`Publications Page has no unexpected changes 1`] = `
  • - - v2 - - : - + + v2 + + : + Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., Gauthier, L. D., Brand, H., Solomonson, M., Watts, N. A., Rhodes, D., Singer-Berk, M., England, E. M., Seaby, E. G., Kosmicki, J. A., … MacArthur, D. G. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature - 581, 434–443 (2020). - - - https://doi.org/10.1038/s41586-020-2308-7 - - - - Download citation - + . 581, 434-443 (2020). + + + + https://doi.org/10.1038/s41586-020-2308-7 + + + + PMID: + 32461654 +
    + + Download citation + + +
  • - - ExAC - - : - - Lek, M., Karczewski, K. J.*, Minikel, E. V.*, Samocha, K. E.*, Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., Cummings, B. B., Tukiainen, T., Birnbaum, D. P., Kosmicki, J. A., Duncan, L. E., Estrada, K., Zhao, F., Zou, J., Pierce-Hoffman, E., … Daly, M. J., MacArthur, D. G. & Exome Aggregation Consortium. Analysis of protein-coding genetic variation in 60,706 humans. + + ExAC + + : + + Lek, M., Karczewski, K. J.*, Minikel, E. V.*, Samocha, K. E.*, Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., Cummings, B. B., Tukiainen, T., Birnbaum, D. P., Kosmicki, J. A., Duncan, L. E., Estrada, K., Zhao, F., Zou, J., Pierce-Hoffman, E., … Daly, M. J., MacArthur, D. G. & Exome Aggregation Consortium. Analysis of protein-coding genetic variation in 60,706 humans Nature - 536, 285–291 (2016). - - https://doi.org/10.1038/nature19057 - - - - Download citation - + . 536, 285-291 (2016). + + + + https://doi.org/10.1038/nature19057 + + + + PMID: + 27535533 +
    + + Download citation + + +
    • * contributed equally @@ -259,20 +281,91 @@ exports[`Publications Page has no unexpected changes 1`] = ` - Guo, M. H.†, Francioli, L. C.†, Stenton, S. L., Goodrich, J. K., Watts, N. A., Singer-Berk, M., Groopman, E., Darnowsky, P. W., Solomonson, M., Baxter, S., gnomAD Project Consortium, Tiao, G., Neale, B. M., Hirschhorn, J. N., Rehm, H., Daly, M. J., O’Donnell-Luria, A., Karczewski, K., MacArthur, D. G., Samocha, K. E. Inferring compound heterozygosity from large-scale exome sequencing data. + Gudmundsson, S., Carlston, C. M., O'Donnell-Luria, A. Interpreting variants in genes affected by clonal hematopoiesis in population data. + + Human Genetics + + . 143, 545-549 (2024). + + + + https://doi.org/10.1007/s00439-023-02526-4 + + + + PMID: + 36739343 + + PMCID: + PMC10400727 + + + +
  • + + Fowler, D. M., Rehm, H. L. Will variants of uncertain significance still exist in 2030? + + American Journal of Human Genetics + + . 111, 5-10 (2024). + + + + https://doi.org/10.1016/j.ajhg.2023.11.005 + + + + PMID: + 38086381 + + PMCID: + PMC10806733 + + +
    • +
  • + + Guo, M. H.*, Francioli, L. C.*, Stenton, S. L., Goodrich, J. K., Watts, N. A., Singer-Berk, M., Groopman, E., Darnowsky, P. W., Solomonson, M., Baxter, S., gnomAD Project Consortium, Tiao, G., Neale, B. M., Hirschhorn, J. N., Rehm, H., Daly, M. J., O’Donnell-Luria, A., Karczewski, K., MacArthur, D. G., Samocha, K. E. Inferring compound heterozygosity from large-scale exome sequencing data. Nature Genetics - (2023). - - - https://doi.org/10.1038/s41588-023-01608-3 - + . 56, 152-161 (2024). + + + + https://doi.org/10.1038/s41588-023-01608-3 + + + + PMID: + 38057443 + + PMCID: + PMC10872287 +
  • - Gudmundsson, S., Singer-Berk, M., Watts, N. A., Phu, W., Goodrich, J. K., Solomonson, M., Genome Aggregation Database (gnomAD) Consortium, Rehm, H. L., MacArthur, D. G., O’Donnell-Luria, A. Variant interpretation using population databases: Lessons from gnomAD. + Lu, W., Gauthier, L. D., Poterba, T., Giacopuzzi, E., Goodrich, J. K., Stevens, C. R., King, D., Daly, M. J., Neale, B. M., Karczewski, K. J. CHARR efficiently estimates contamination from DNA sequencing data. - Human Mutation + American Journal of Human Genetics - 1-19 (2021). - - https://doi.org/10.1002/humu.24309 - + . 110, 2068-2076 (2023). + + + + https://doi.org/10.1016/j.ajhg.2023.10.011 + + + + PMID: + 38000370 + + PMCID: + PMC10716339 +
  • - Laricchia, K. M.*, Lake, N. J.*, Watts, N. A., Shand, M., Haessly, A., Gauthier, L. D., Benjamin, D., Banks, E., Soto, J., Garimella, K., Emery, J., Genome Aggregation Database (gnomAD) Consortium, Rehm, H. L., MacArthur, D. G., Tiao, G.†, Lek, M.†, Mootha, V. K.†, Calvo, S. E.† Mitochondrial DNA variation across 56,434 individuals in gnomAD. - + Singer-Berk, M.*, Gudmundsson, S.*, Baxter, S., Seaby, E. G., England, E., Wood, J. C., Son, R. G., Watts, N. A., Karczewski, K. J., Harrison, S. M., MacArthur, D. G., Rehm, H. L., O'Donnell-Luria, A. Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data. - Genome Res. + American Journal of Human Genetics - 32, 569–582 (2022). - - https://doi.org/10.1101/gr.276013.121 - + . 110, 1496-1508 (2023). + + + + https://doi.org/10.1016/j.ajhg.2023.08.005 + + + + PMID: + 37633279 + + PMCID: + PMC10502856 +
  • - Collins, R. L.*, Brand, H.*, Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., Watts, N. A., Solomonson, M., O’Donnell-Luria, A., Baumann, A., Munshi, R., Walker, M., Whelan, C., Huang, Y., Brookings, T., … Talkowski, M. E. A structural variation reference for medical and population genetics. + Babadi, M.*, Fu, J. M.*, Lee, S. K.*, Smirnov, A. N.*, Gauthier, L. D., Walker, M., Benjamin, D. I., Zhao, X., Karczewski, K. J., Wong, I., Collins, R. L., Sanchis-Juan, A., Brand, H., Banks, E., Talkowski, M. E. GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data. - Nature + Nature Genetics - 581, 444–451 (2020). - - https://doi.org/10.1038/s41586-020-2287-8 - + . 55, 1589-1597 (2023). + + + + https://doi.org/10.1038/s41588-023-01449-0 + + + + PMID: + 37604963 + + PMCID: + PMC10904014 +
  • - Cummings, B. B., Karczewski, K. J., Kosmicki, J. A., Seaby, E. G., Watts, N. A., Singer-Berk, M., Mudge, J. M., Karjalainen, J., Kyle Satterstrom, F., O’Donnell-Luria, A., Poterba, T., Seed, C., Solomonson, M., Alföldi, J., The Genome Aggregation Database Production Team, The Genome Aggregation Database Consortium, Daly, M. J., & MacArthur, D. G. Transcript expression-aware annotation improves rare variant interpretation. - + Karczewski, K. J., Gauthier, L. D., & Daly, M. J. Technical artifact drives apparent deviation from Hardy-Weinberg equilibrium at CCR5-∆32 and other variants in gnomAD. - Nature + bioRxiv - 581, 452–458 (2020). - - https://doi.org/10.1038/s41586-020-2329-2 - + . (p. 784157). + + + + https://doi.org/10.1101/784157 + + + + +
  • - Minikel, E. V., Karczewski, K. J., Martin, H. C., Cummings, B. B., Whiffin, N., Rhodes, D., Alföldi, J., Trembath, R. C., van Heel, D. A., Daly, M. J., Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Schreiber, S. L., & MacArthur, D. G. Evaluating potential drug targets through human loss-of-function genetic variation. + Atkinson, E. G.*, Artomov, M.*, Loboda, A. A., Rehm, H. L., MacArthur, D. G., Karczewski, K. J., Neale, B. M.†, Daly, M. J.†. Discordant calls across genotype discovery approaches elucidate variants with systematic errors. - Nature + Genome Research - 581, 459–464 (2020). - - https://doi.org/10.1038/s41586-020-2267-z - + . 33, 999-1005 (2023). + + + + https://doi.org/10.1101/gr.277908.123 + + + + PMID: + 37253541 + + PMCID: + PMC10519400 +
  • - Wang, Q., Pierce-Hoffman, E., Cummings, B. B., Karczewski, K. J., Alföldi, J., Francioli, L. C., Gauthier, L. D., Hill, A. J., O’Donnell-Luria, A. H., Genome Aggregation Database (gnomAD) Production Team, Genome Aggregation Database (gnomAD) Consortium, & MacArthur, D. G. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. + Seaby, E. G., Thomas, N. S., Webb, A., Brittain, H., Taylor Tavares, A. L.; Genomics England Consortium; Baralle, D., Rehm, H. L., O'Donnell-Luria, A.†, Ennis, S.†. Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project. + + Human Genetics + + . 142, 351-362 (2023). + + + + https://doi.org/10.1007/s00439-022-02509-x + + + + PMID: + 36477409 + + PMCID: + PMC9950176 + + +
    • +
  • + + Pejaver, V. Byrne, A. B., Feng, B. J., Pagel, K. A., Mooney, S. D., Karchin, R., O'Donnell-Luria, A., Harrison, S. M., Tavtigian, S. V., Greenblatt, M. S., Biesecker, L. G., Radivojac, P., Brenner, S. E. ClinGen Sequence Variant Interpretation Working Group. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria. + + American Journal of Human Genetics + + . 109, 2163-2177 (2022). + + + + https://doi.org/10.1016/j.ajhg.2022.10.013 + + + + PMID: + 36413997 + + PMCID: + PMC9748256 + + +
    • +
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    • * contributed equally