{"entity": "researcher", "timestamp": "2026-08-20T21:19:33.335Z", "family": "Maqbool", "given": "Khurram", "initials": "K", "orcid": "0000-0003-2981-2582", "affiliations": ["Department of Microbiology, Tumor and Cell Biology, Clinical Genomics Stockholm, Science Life Laboratory, Karolinska Institutet, Solna, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/ae3c7cd13b74462da918d013a96c7e3f.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/ae3c7cd13b74462da918d013a96c7e3f"}}, "publications": [{"entity": "publication", "iuid": "afa87c9d58584b1caa68e7eac3b20e44", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/afa87c9d58584b1caa68e7eac3b20e44.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/afa87c9d58584b1caa68e7eac3b20e44"}}, "title": "Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer.", "authors": [{"family": "Wadensten", "given": "Elisabeth", "initials": "E"}, {"family": "Wessman", "given": "Sandra", "initials": "S", "orcid": "0000-0002-2035-2092", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d95567cab7404bdda2b61558c00ec446.json"}}, {"family": "Abel", "given": "Frida", "initials": "F", "orcid": "0000-0001-6958-4487", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/daddf59b269246e7aa22b214f4d8ddcd.json"}}, {"family": "Diaz De St\u00e5hl", "given": "Teresita", "initials": "T", "orcid": "0000-0001-5933-6623", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1f642682a7cb4d648ecc3fa016e7569d.json"}}, {"family": "Tesi", "given": "Bianca", "initials": "B"}, {"family": "Orsmark Pietras", "given": "Christina", "initials": "C"}, {"family": "Arvidsson", "given": "Linda", "initials": "L"}, {"family": "Taylan", "given": "Fulya", "initials": "F", "orcid": "0000-0002-2907-0235", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fc9bc4b87d0f43b9a0528e936921e5ae.json"}}, {"family": "Fransson", "given": "Susanne", "initials": "S", "orcid": "0000-0002-9713-3074", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bd0dd92b148e4ec5aa0577e5c72cf912.json"}}, {"family": "Vogt", "given": "Hartmut", "initials": "H", "orcid": "0000-0001-6009-7789", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/06785b3196a54727ba196337e3c30e95.json"}}, {"family": "Poluha", "given": "Anna", "initials": "A", "orcid": "0000-0002-4716-9423", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/39d693db32f545588e14bc02d3a8549e.json"}}, {"family": "Pradhananga", "given": "Sailendra", "initials": "S"}, {"family": "Hellberg", "given": "Maria", "initials": "M"}, {"family": "Lagerstedt-Robinson", "given": "Kristina", "initials": "K"}, {"family": "Raj Somarajan", "given": "Praveen", "initials": "P", "orcid": "0009-0005-5981-2286", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/828d59fa698842e5a15445ea305ff31b.json"}}, {"family": "Samuelsson", "given": "Sofie", "initials": "S"}, {"family": "Orrsj\u00f6", "given": "Sara", "initials": "S", "orcid": "0009-0008-9223-3923", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f0601b0c65ba4f24877ef146d0ceeffe.json"}}, {"family": "Maqbool", "given": "Khurram", "initials": "K", "orcid": "0000-0003-2981-2582", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ae3c7cd13b74462da918d013a96c7e3f.json"}}, {"family": "Henning", "given": "Karin", "initials": "K"}, {"family": "Strid", "given": "Tobias", "initials": "T"}, {"family": "Ek", "given": "Torben", "initials": "T", "orcid": "0000-0002-0518-983X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/850c29cc84154b34a326b6c6d8972441.json"}}, {"family": "Fagman", "given": "Henrik", "initials": "H"}, {"family": "Olsson Bontell", "given": "Thomas", "initials": "T"}, {"family": "Martinsson", "given": "Tommy", "initials": "T", "orcid": "0000-0002-9403-3123", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b0a7ec78cfc1491d854e69db043391e0.json"}}, {"family": "Puls", "given": "Florian", "initials": "F", "orcid": "0000-0002-9841-4230", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0290b39bf8df4d799729504d5ab0ae8a.json"}}, {"family": "Kogner", "given": "Per", "initials": "P", "orcid": "0000-0002-2202-9694", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aaa43812c53f4506be50ad29266dd237.json"}}, {"family": "Wirta", "given": "Valtteri", "initials": "V", "orcid": "0000-0003-3811-5439", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6a4f538e838c483eb968174f2df89165.json"}}, {"family": "Pronk", "given": "Cornelis Jan", "initials": "CJ", "orcid": "0000-0002-0073-9660", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6f007476115a4a29b4859fbe84fad34d.json"}}, {"family": "Wille", "given": "Joakim", "initials": "J", "orcid": "0009-0008-6426-9830", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c13112bf82844897891fc8de8dacb6a2.json"}}, {"family": "Rosenquist", "given": "Richard", "initials": "R", "orcid": "0000-0002-0211-8788", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dc038c13a8cb44bd93f3552ed250a179.json"}}, {"family": "Nist\u00e9r", "given": "Monica", "initials": "M", "orcid": "0000-0002-1261-3790", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e1ff9fe255d640c0a2bbed0913fe208d.json"}}, {"family": "Mertens", "given": "Fredrik", "initials": "F"}, {"family": "Sabel", "given": "Magnus", "initials": "M", "orcid": "0000-0002-3072-657X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bb21eb962ff640199034b2dfa827d793.json"}}, {"family": "Nor\u00e9n-Nystr\u00f6m", "given": "Ulrika", "initials": "U", "orcid": "0000-0001-5606-5442", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b4e358be0b4243ffaf8526ff84dc31ed.json"}}, {"family": "Grillner", "given": "Pernilla", "initials": "P"}, {"family": "Nordgren", "given": "Ann", "initials": "A", "orcid": "0000-0003-3285-4281", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/02de5158a75e4fa9a5c7b8bf417a8fea.json"}}, {"family": "Ljungman", "given": "Gustaf", "initials": "G"}, {"family": "Sandgren", "given": "Johanna", "initials": "J", "orcid": "0000-0001-6776-2649", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/14214db9a98248228cf8825461ad73fd.json"}}, {"family": "Gisselsson", "given": "David", "initials": "D", "orcid": "0000-0002-0301-426X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/43d7ebbd276e40eaae0dc9ea6d905d99.json"}}, {"family": "Genomic Medicine Sweden Childhood Cancer Working Group", "given": "", "initials": ""}], "type": "journal article", "published": "2023-06-00", "journal": {"title": "JCO Precis Oncol", "issn": "2473-4284", "volume": "7", "pages": "e2300039", "issn-l": null}, "abstract": "Several studies have indicated that broad genomic characterization of childhood cancer provides diagnostically and/or therapeutically relevant information in selected high-risk cases. However, the extent to which such characterization offers clinically actionable data in a prospective broadly inclusive setting remains largely unexplored.\n\nWe implemented prospective whole-genome sequencing (WGS) of tumor and germline, complemented by whole-transcriptome sequencing (RNA-Seq) for all children diagnosed with a primary or relapsed solid malignancy in Sweden. Multidisciplinary molecular tumor boards were set up to integrate genomic data in the clinical decision process along with a medicolegal framework enabling secondary use of sequencing data for research purposes.\n\nDuring the study's first 14 months, 118 solid tumors from 117 patients were subjected to WGS, with complementary RNA-Seq for fusion gene detection in 52 tumors. There was no significant geographic bias in patient enrollment, and the included tumor types reflected the annual national incidence of pediatric solid tumor types. Of the 112 tumors with somatic mutations, 106 (95%) exhibited alterations with a clear clinical correlation. In 46 of 118 tumors (39%), sequencing only corroborated histopathological diagnoses, while in 59 cases (50%), it contributed to additional subclassification or detection of prognostic markers. Potential treatment targets were found in 31 patients (26%), most commonly ALK mutations/fusions (n = 4), RAS/RAF/MEK/ERK pathway mutations (n = 14), FGFR1 mutations/fusions (n = 5), IDH1 mutations (n = 2), and NTRK2 gene fusions (n = 2). In one patient, the tumor diagnosis was revised based on sequencing. Clinically relevant germline variants were detected in 8 of 94 patients (8.5%).\n\nUp-front, large-scale genomic characterization of pediatric solid malignancies provides diagnostically valuable data in the majority of patients also in a largely unselected cohort.", "doi": "10.1200/PO.23.00039", "pmid": "37384868", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10581599"}], "notes": [], "created": "2026-08-20T12:37:55.415Z", "modified": "2026-08-20T12:37:56.263Z"}, {"entity": "publication", "iuid": "7e3f01a8418647da940346b5dec42e8a", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/7e3f01a8418647da940346b5dec42e8a.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/7e3f01a8418647da940346b5dec42e8a"}}, "title": "Genetics of adaptation in modern chicken.", "authors": [{"family": "Qanbari", "given": "Saber", "initials": "S", "orcid": "0000-0001-6866-2332", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/09cd2f42c25244f2ba6bd38e47e1687a.json"}}, {"family": "Rubin", "given": "Carl-Johan", "initials": "CJ"}, {"family": "Maqbool", "given": "Khurram", "initials": "K", "orcid": "0000-0003-2981-2582", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ae3c7cd13b74462da918d013a96c7e3f.json"}}, {"family": "Weigend", "given": "Steffen", "initials": "S", "orcid": "0000-0002-5670-2808", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/33caae1d455944a08ea27fe38ff1dc6f.json"}}, {"family": "Weigend", "given": "Annett", "initials": "A"}, {"family": "Geibel", "given": "Johannes", "initials": "J", "orcid": "0000-0001-7172-3263", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ece6deab99654b43a3ad4c3ba5207143.json"}}, {"family": "Kerje", "given": "Susanne", "initials": "S"}, {"family": "Wurmser", "given": "Christine", "initials": "C"}, {"family": "Peterson", "given": "Andrew Townsend", "initials": "AT", "orcid": "0000-0003-0243-2379", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/db93d27713d543d1800d28612578d8aa.json"}}, {"family": "Brisbin", "given": "I Lehr", "initials": "IL", "orcid": "0000-0002-7561-4512", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a6541972d852473b8e133af68a59623d.json"}}, {"family": "Preisinger", "given": "Ruedi", "initials": "R"}, {"family": "Fries", "given": "Ruedi", "initials": "R", "orcid": "0000-0002-4657-1787", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cfce77817ce9418d91e4274839257674.json"}}, {"family": "Simianer", "given": "Henner", "initials": "H"}, {"family": "Andersson", "given": "Leif", "initials": "L"}], "type": "journal article", "published": "2019-04-00", "journal": {"title": "PLoS Genet", "issn": "1553-7404", "volume": "15", "issue": "4", "pages": "e1007989", "issn-l": "1553-7390"}, "abstract": "We carried out whole genome resequencing of 127 chicken including red jungle fowl and multiple populations of commercial broilers and layers to perform a systematic screening of adaptive changes in modern chicken (Gallus gallus domesticus). We uncovered >21 million high quality SNPs of which 34% are newly detected variants. This panel comprises >115,000 predicted amino-acid altering substitutions as well as 1,100 SNPs predicted to be stop-gain or -loss, several of which reach high frequencies. Signatures of selection were investigated both through analyses of fixation and differentiation to reveal selective sweeps that may have had prominent roles during domestication and breed development. Contrasting wild and domestic chicken we confirmed selection at the BCO2 and TSHR loci and identified 34 putative sweeps co-localized with ALX1, KITLG, EPGR, IGF1, DLK1, JPT2, CRAMP1, and GLI3, among others. Analysis of enrichment between groups of wild vs. commercials and broilers vs. layers revealed a further panel of candidate genes including CORIN, SKIV2L2 implicated in pigmentation and LEPR, MEGF10 and SPEF2, suggestive of production-oriented selection. SNPs with marked allele frequency differences between wild and domestic chicken showed a highly significant deficiency in the proportion of amino-acid altering mutations (P<2.5\u00d710-6). The results contribute to the understanding of major genetic changes that took place during the evolution of modern chickens and in poultry breeding.", "doi": "10.1371/journal.pgen.1007989", "pmid": "31034467", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC6508745"}, {"db": "pii", "key": "PGENETICS-D-18-01477"}], "notes": [], "created": "2026-08-20T12:43:37.715Z", "modified": "2026-08-20T12:43:37.993Z"}]}