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Jan 24, 2025 | 
digitalcommons.library.tmc.edu | Elizabeth Atkinson |Mykyta Artomov |Alexander Loboda |Heidi Rehm
KeywordsGenotype, Heterozygote, Genetics, Population, Phenotype, Exome, Polymorphism, Single NucleotideAbstractLarge-scale high-throughput sequencing data sets have been transformative for informing clinical variant interpretation and for use as reference panels for statistical and population genetic efforts.
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Jan 9, 2025 | 00451-8&sz=64)
cell.com | Alice B. Popejoy |Deborah I. Ritter |Danielle Azzariti |Jonathan S. Berg |Joanna Bulkley |Mildred K. Cho | +11 more
Keywordsgeneticsjusticeequitydiversityinclusionsocial justiceJEDIClinical Genome ResourceClinGenGet full text accessLog in, subscribe or purchase for full access. References2. Jenkins, B.D. ∙ Fischer, C.G. ∙ Polito, C.A. ... The 2019 US medical genetics workforce: a focus on clinical geneticsGenet. Med. 2021; 23:1458-14643. National Society of Genetic Counselors. 2021 professional status survey: Executive summary., Oct 26th.
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Jan 3, 2025 | 
myadlm.org | Heidi Rehm
Listen to the Clinical Chemistry PodcastArticleHeidi L Rehm. Overcoming Barriers to Genomic Medicine Implementation. Clin Chem 2025; 71(1): 4–9. GuestDr. Heidi Rehm from the Center for Genomic Medicine at Massachusetts General Hospital, the Program in Medical and Population Genetics at the Broad Institute, and Broad Clinical Laboratories. Transcript[Download pdf]Bob Barrett: This is a podcast from Clinical Chemistry, a production of the Association for Diagnostics & Laboratory Medicine.
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Oct 29, 2024 | 
nature.com | Peter Freeman |John Wagstaff |Garry R. Cutting |Heidi Rehm |Angela Davies |Liam J. Gretton
Correction to: Nature Genetics https://doi.org/10.1038/s41588-024-01938-w, published online 2 October 2024. In the version of the article initially published, there was a typographical error in the sixth paragraph, where “<95%” should have been “>95%” in the sentence now reading “Despite these efforts, ongoing research with the Genetics in Medicine journal shows that >95% of submitted manuscripts…”. This error has been amended in the HTML and PDF versions of the article.
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Oct 7, 2024 | 
nature.com | Zornitza Stark |David Glazer |Oliver Hofmann |Augusto Rendon |Christian R Marshall |Naomi E Allen | +1 more
AbstractGenomic data from millions of individuals have been generated worldwide to drive discovery and clinical impact in precision medicine. Lowering the barriers to using these data collectively is needed to equitably realize the benefits of the diversity and scale of population data.
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Oct 2, 2024 | 
nature.com | Peter Freeman |John Wagstaff |Garry R. Cutting |Heidi Rehm |Angela Davies |Liam J. Gretton
Accurate naming of genetic variants is essential to identify clinical data that interpret the consequences of such variants. In partnership with the Human Genome Organization, we advocate for integration of VariantValidator in publishing of journals and databases, to improve the quality of shared genetic data and ultimately patient outcomes.
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Jul 29, 2024 | 
nature.com | Caroline Wright |Luke Sharp |Leigh Jackson |Anna Murray |James S. Ware |Heidi Rehm | +1 more
AbstractPenetrance is the probability that an individual with a pathogenic genetic variant develops a specific disease. Knowing the penetrance of variants for monogenic disorders is important for counseling of individuals. Until recently, estimates of penetrance have largely relied on affected individuals and their at-risk family members being clinically referred for genetic testing, a ‘phenotype-first’ approach.
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Mar 26, 2024 | 
nature.com | Vaidehi Jobanputra |Brock Schroeder |Heidi Rehm |Stacie L. Taylor |Christian R Marshall |Stephen Kingsmore | +1 more
IntroductionEpidemiologic studies estimate that 2–6% of the global population is affected by a rare disease, up to 80% of which are genetic in origin1,2. Diagnostic delays can result in significant burdens including missed opportunities for intervention, unnecessary procedures and treatments, and an emotional toll on families and their care providers3.
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Mar 20, 2024 | 
genome.gov | Heidi Rehm
Upcoming Seminars March 28, 2024, 5:00 - 6:00 p.m. ETHeidi Rehm, Ph.D.Institute Member, Co-director of the Program in Medical and Population GeneticsBROAD InstituteHeidi Rehm, a human geneticist and genomic medicine researcher, is co-director of the Program in Medical and Population Genetics and an institute member at the Broad Institute.
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Jan 15, 2024 | 
nature.com | Masahiro Kanai |Qingbo Wang |Jessica Alföldi |William Phu |Yossi Farjoun |Anne H. O’Donnell-Luria | +4 more
Correction to: Nature https://doi.org/10.1038/s41586-023-06045-0 Published online 6 December 2023In the version of this article initially published, data points did not appear in Supplementary Figs. 6–8, and are now included in the online version of the Supplementary Information. About this articleChen, S., Francioli, L.C., Goodrich, J.K. et al. Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes. Nature (2024).
