Medical Genetics

Medical genetics is the branch of medicine that applies genetic principles to the diagnosis, management, and counseling of hereditary and genetic disorders.

191.8K

Publications

11.7M

Citations

570.3K

Authors

25.5K

Institutions

Publications per year

2017–2026

35.7K

Variants

Clinical Genetics

Parents

Genetics

Children

Chromosomal DisordersClinical CytogeneticsCopy Number VariationGenotype-phenotype CorrelationHereditary Cancer SyndromesImprinting DisordersMendelian DisordersMendelian InheritanceMitochondrial DisordersPopulation Genetics In Medicine

Publications

191.8K

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics · 2007 · 36.1K citations · Full text

Life Sciences, Bioinformatics, Genetics +13

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype

Daehwan Kim, Joseph M. Paggi, Chanhee Park et al. · Nature Biotechnology · 2019 · 15.7K citations · Full text

Life Sciences, Bioinformatics, Genetics +12

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

1–5 of 191.8K

Authors

570.3K

MJ
Mark J. Daly
Broad Institute, United States
311 publications · 161.7K citations
127
h-index
EB
Eric Boerwinkle
The University of Texas Health Science Center at Houston, United States
457 publications · 97K citations
113
h-index
MI
Mark I. McCarthy
Oxford Centre for Diabetes, Endocrinology and Metabolism, United Kingdom
260 publications · 84.9K citations
112
h-index
KS
Kāri Stefánsson
deCODE Genetics (Iceland), Iceland
228 publications · 61K citations
111
h-index
AG
André G. Uitterlinden
Erasmus MC, Netherlands
321 publications · 50.6K citations
109
h-index

1–5 of 570.3K

Institutions

25.5K

1–8 of 25.5K

Venues

Nature Genetics
1.5K publications · 616.5K citations
439
h-index
The American Journal of Human Genetics
AJHG · 2.5K publications · 432.9K citations
288
h-index
Nature
744 publications · 366.3K citations
277
h-index
New England Journal of Medicine
NEJM · 748 publications · 253.7K citations
273
h-index
Proceedings of the National Academy of Sciences
PNAS · 1.3K publications · 241.4K citations
246
h-index

1–5

See also Medical Genetics
Core Methods	Variant Interpretation Linkage Analysis Next-generation Sequencing Genome Sequencing Pedigree Charts Large Language Models Gene Expression Analysis Epigenomic Profiling Variant Calling Whole Exome Sequencing Studies Targeted Gene Panel Sequencing
Clinical Applications	Variant Interpretation Genetic Counseling Cancer Genomics Precision Medicine Hereditary Disease Screening Genetic Risk Screening
Genetic Disorders	Genetic Disorders Mitochondrial Disease Mendelian Disorders Chromosomal Disorders Mitochondrial Disorders Neurodegenerative Mitochondrial Dysfunction
Genetic Counseling	Risk Communication Risk Stratification Autonomy Disease Risk Prediction Pre-test Genetic Counseling Shared Decision-making Risk Perception
Ethical Issues	Genetic Counseling Genetic Engineering Genetic Determinism Genetic Discrimination Variant Classification Genomic Data Privacy Consent Dynamic Consent Algorithmic Bias