genome aggregation database (gnomad) (Broad Institute Inc)
90
Structured Review
Broad Institute Inc
genome aggregation database (gnomad)
Genome Aggregation Database (Gnomad), supplied by Broad Institute Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/genome+aggregation+database/genome+aggregation+database/pmc12267008-34-9-14
Average 90 stars, based on 1 article reviews
Genome Aggregation Database (Gnomad), supplied by Broad Institute Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/genome+aggregation+database/genome+aggregation+database/pmc12267008-34-9-14
Average 90 stars, based on 1 article reviews
genome aggregation database (gnomad) - by Bioz Stars,
2026-10
90/100 stars
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other:Article Title: Analyses of Human Genetic Data to Identify Clinically Relevant Domains of Neuroligins Article Snippet: Maintained by the Broad Institute, the Genome Aggregation Database (gnomAD) is a repository of genetic variants from unimpacted populations (i.e., populations without NDDs) that differ from the established consensus human genome (as of this publication, Genome Reference Consortium Human Build 38 [GRCh38]) [ ]. Article Title: Multiplex generation and single-cell analysis of structural variants in mammalian genomes Article Snippet: I. Chen, J. I. Rotter, C. Nusbaum, A. Philippakis, E. Lander, S. Gabriel, B. M. Neale, S. Kathiresan, M. J. Daly, E. Banks, D. G. MacArthur, M. E. Talkowski; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium, A structural variation reference for medical and population genetics. Article Title: Myeloid clonal hematopoiesis of indeterminate potential in patients with chronic lymphocytic leukemia. Article Snippet: When the VAF was ≥30%, we 5950 VIJENTHIRA et al explored the population allele frequency (PAF) using the Broad Institute Genome Aggregation database.10 If the PAF was ≥0.1%, the variant was categorized as germ line; if the PAF was <0.1%, the variant was categorized as somatic; if the PAF was unknown, the variant was categorized as unknown. Article Title: Decreased expression of hsa-miR-142-3p and hsa-miR-155-5p in common variable immunodeficiency and involvement of their target genes and biological pathways. Article Snippet: We assessed the pathogenicity of all candidate variations based on the updated guideline of the American College of Medical Genetics and Genomics (ACMG).19 We evaluated the allele frequency of variants in population databases such as the Genome Aggregation Database (gnomAD; Broad Institute) and Iranome (https://www.iranome.com) and excluded the variants with an allele frequency greater than 0.01%. Sequencing:Article Title: Integrating ctDNA Analysis and Radiomics for Dynamic Risk Assessment in Localized Lung Cancer Article Snippet: Everett J. Moding1,2, Mohammad Shahrokh Esfahani2,3, Cheng Jin1, Angela B. Hui1,2, Barzin Y. Nabet2, Yufei Liu4, Jacob J. Chabon2, Michael S. Binkley1,2, David M. Kurtz3, Emily G. Hamilton2, Aadel A. Chaudhuri5, Chih Long Liu3, Zhe Li1, Rene F. Bonilla1, Alice L. Jiang1, Brianna C. Lau1, Pablo Lopez4, Jianzhong He4, Yawei Qiao4, Ting Xu4, Luyang Yao4, Saumil Gandhi4, Zhongxing Liao4, Millie Das3,6, Kavitha J. Ramchandran3, Sukhmani K. Padda3, Joel W. Neal3, Heather A. Wakelee3, Michael F. Gensheimer1, Billy W. Loo Jr1, Ruijiang Li1,2, Steven H. Lin4, Ash A. Alizadeh2,3,7, and Maximilian Diehn1,2,7 D ow nloaded from http://aacrjournals.org/cancerdiscovery/article-pdf/doi/10.1158/2159-8290.C D -24-1704/3599253/cd-24-1704.pdf by guest on 01 M ay 2025 AACRJournals.orgOF2 | CANCER DISCOVERY XXX 2025 1Department of Radiation Oncology, Stanford University, Stanford, California.. 2Stanford Cancer Institute, Stanford University, Stanford, California.. 3Division of Oncology, Department of Medicine, Stanford University, Stanford, California. Variant Assay:Article Title: Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum Article Snippet: .. The frequency of each disease‐causing variant was determined using the Mutagenesis:Article Title: A new GRN variant in logopenic variant primary progressive aphasia: a case report and literature review. Article Snippet: .. GRN deletion was absent from the Human Gene Mutation Database (https://www.hgmd.cf.ac.uk), ClinVar (https://www. ncbi.nlm.nih.gov/clinvar/), Clinical Proteomics:Article Title: Analytical Validation of the Labcorp Plasma Complete Test, a Cell-Free DNA Comprehensive Genomic Profiling Tool for Precision Oncology. Article Snippet: .. Common germline polymorphisms ( 1% minor allele frequency) present in dbSNP Qversion 150 (https://www.ncbi.nlm.nih.gov/snp, last accessed April 1, 2023), ExAC Qversion 0.3.1 (https://exac.broadinstitute.org, last accessed May 1, 2017, now available within the Genome Aggregation Database browser), and |