Overview

The Genome in Clinical Medicine, Volume 1 Human Genomic Variation, Epigenetics, and the Molecular Basis of Disease For clinicians, residents, and genetic counselors who need genomic medicine at the point of care - not theory, but clinically referenced, guideline-aligned, and immediately applicable. The Genome in Clinical Medicine, Volume 1 is a structured 16-chapter clinical reference covering the full arc of human genomic medicine across 6 parts - from genomic architecture and variant classification to CRISPR gene editing, pharmacogenomics, and prenatal genomics. What This Volume Covers Genomic architecture, variant classification, and NGS sequencing platforms ACMG/AMP variant interpretation - aligned to ClinGen updates and gnomAD v4 Epigenetic mechanisms and disease - DNA methylation, histone modification, chromatin remodelling, non-coding RNA, and imprinting disorders Mendelian inheritance, polygenic risk scores, cancer genomics, and hereditary cancer syndromes Pharmacogenomics and CYP450 implementation - with 2024 CPIC CYP2D6/CYP2C19 updates Epigenetic therapeutics - DNMT, HDAC, and EZH2 inhibitors CRISPR-Cas9 and ex vivo HSC gene editing, including Casgevy (2023) Clinical genomic testing pathways, EHR-integrated genomic decision support, and NIPT Built for Clinical Use 20 original high-quality clinical figures including ACMG/AMP interpretation workflow, PRS risk stratification, two-hit tumour suppressor model, CRISPR-Cas9 DSB repair pathways, and prenatal decision pathway Referenced to current international guidelines: ACMG/AMP, CPIC, ClinGen, ACMG SF v3.2, 2025 ACMG prenatal guidelines, and FDA-approved gene therapies Full subject index (90+ entries), abbreviations glossary (70 entries), and complete reference lists per chapter - AMA 11th edition Who This Book Is For Clinicians and hospitalists integrating genomics into practice - Internal medicine residents and fellows - Genetic counselors - Advanced medical students - Specialists in oncology, cardiology, neurology, and reproductive medicine Volume 2 - The Microbial Genome: Dysbiosis, the Gut, and Clinical Practice - in preparation. This is a precise, no-filler clinical reference built for the era of genomic medicine. Every chapter moves from molecular mechanism to clinical application - structured for rapid use on the ward, in clinic, and in consultation.

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