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Medical Genetics and Genomics in Clinical Practice: Pathophysiology, Genomic Testing, and Clinical Case Integration for USMLE Step 1, Step 2, and Resi
Paperback
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Publisher: Independently Published
Pages: 290
Weight: 1.49
Height: 0.61 Width: 8.50 Depth: 11.00
Language: English
You will be tested on the language of the genome, on board exams and at the bedside. Are you fluent?
Genomic medicine is no longer a subspecialty. It is the daily working language of oncology, cardiology, pharmacology, and reproductive medicine, yet most training pushes molecular biology and clinical practice into separate silos. Medical Genetics and Genomics in Clinical Practice closes that gap with a single unified narrative, tracing each concept from the molecular mechanism all the way to the bedside decision it drives, across 32 parts spanning gene expression, chromosomal disease, inborn errors of metabolism, organ-system genetics, cancer genomics, laboratory technology, reproductive medicine, pharmacogenomics, ethics, and the emerging frontier of AI in genomics.
Inside, you will build the fluency to:
- Read and interpret next-generation sequencing, chromosomal microarray, and liquid biopsy reports with confidence
- Apply the ACMG/AMP framework to classify variants and manage results of uncertain significance
- Calculate Bayesian recurrence risk and construct a clinically useful pedigree
- Counsel patients on hereditary cancer risk across BRCA1/2, Lynch syndrome, and multi-gene panels
- Apply CPIC pharmacogenomic guidelines to real prescribing decisions
- Recognize and manage inborn errors of metabolism, lysosomal storage disorders, and chromosomal microdeletion syndromes
- Master the Mendelian, mitochondrial, and polygenic inheritance patterns tested on USMLE Step 1, Step 2, and specialty boards
Every chapter opens with calibrated learning objectives and builds pathophysiology into diagnosis into management, so you retain the reasoning, not just the vocabulary list.
Whether you are studying for boards, starting a residency rotation, or keeping a desk reference for clinical practice, add this text to your shelf and build the genomic fluency your patients and your exams demand.
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