View PDF select article Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG) Practice guidelineOpen archive ...
Explore the effect of genetics and genomics in medicine on advancing personalized medicine and public health through new knowledge of the human genome.
and Genomics in Medicine explains the science behind the uses of genetics and genomics in medicine today, and how it is being applied.Maintaining the features that made the first edition so popular, this second edition has been thoroughly updated in line with the latest developments in the field...
Genetics, Genomics, and Precision Medicine inEnd-Stage Kidney DiseaseJeffrey B. Kopp, MD, * and Cheryl A. Winkler, PhD †Summary: Recent advances in genetics of renal disease have deepened our understanding of progressive kidneydisease. Here, we review genetic variants that are of particular im...
probably the most popular textbook for Human Molecular Genetics. Now, the first author Tom Strachan from Newcastle upon Tyne, presents, together with two coauthors, a further textbook on ‘Genetics and Genomics in Medicine’. Already the title tells us that the field has broadened and that knowl...
Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic Aaron D. Besterman, David J. Adams, Nicole R. Wong, Benjamin N. Schneider, ... Shafali S. JesteFebruary 2025 Article 101333 View PDF Article preview select article Upregulation versus loss...
Enthusiastic predictions about personalized medicine have surrounded the sequencing of the human genome. As commonly used, the term predicts a leap
Comments & Opinion27 May 2025Nature Medicine P: 1-4 Methods for multiplexing single-cell multi-omics Advances in single-cell multi-omics assays that co-detect two or more modalities enable a new frontier in resolving cellular heterogeneity and gene regulation. ...
Nearly two decades ago, the American College of Medical Genetics (now the American College of Medical Genetics and Genomics [ACMG]) Policy Statement “Duty to re-contact” was prescient in highlighting the increasingly important issue of patient re-contact.1 Originally focused on clinical genetics ...
o Molecular Physiology and Biophysics, Baylor College o Medicine, Houston, exas, USA; 12 School o Medicine, University o Colorado Denver, Aurora, Colorado, USA. Correspondence: Raye L. Al ord (ral ord@bcm.edu) American College of Medical Genetics and Genomics guideline for the clinical ...