Current Protocols in Human Genetics

Aims & Scope

Sound and reproducible laboratory methods are the foundation of scientific discovery.

Yet, all too often, nuances that are critical for an experiment’s success are not captured in the primary literature but exist only as part of a lab’s oral tradition.

The aim of each Current Protocols title is to provide the clearest, most detailed and reliable step-by-step instructions for all protocols relevant to a given subject area.

Written by experts in the field and extensively edited to our exacting standards, the protocols include all of the information necessary to complete an experiment in the laboratory—introduction, materials lists with supplier information, detailed step-by-step procedures with helpful annotations, recipes for reagents and solutions, illustrative figures and information-packed tables.

Each article also provides invaluable discussions of background information, applications of the methods, important assumptions, key parameters, time considerations, and tips to help avoid common pitfalls and troubleshoot experiments.

Furthermore, Current Protocols content is thoughtfully organized by topic for optimal usage and to maximize contextual knowledge.

Quarterly issues allow Current Protocols to constantly evolve to keep pace with the newest discoveries and developments.

Current Protocols in Human Genetics is the comprehensive resource for all types of research and clinical laboratory approaches pertaining to human genetics.

Current Protocols in Human Genetics brings together hundreds of core and cutting edge techniques in all branches of genetics including: Genetic Mapping Genotyping Cytogenetics Identifying Candidate Genes Identifying Sequence Variants Clinical Cytogenetics Clinical Molecular Genetics Cancer Genetics Transcriptional Profiling Gene Therapy Forensic Genetics Model Systems for the Analysis of Human Disease Biochemical Genetics High‐Throughput Sequencing Mitochondrial Genetics Epigenetics iPS Cell Models.

Abstracting & Indexing

Journal is indexed in leading academic databases, ensuring global visibility and accessibility of our peer-reviewed research.

• Scopus
• Google Scholar

Subjects & Keywords

Journal’s research areas, covering key disciplines and specialized sub-topics in Biochemistry, Genetics and Molecular Biology and Medicine, designed to support cutting-edge academic discovery.

Most Cited Articles

The Most Cited Articles section features the journal's most impactful research, based on citation counts. These articles have been referenced frequently by other researchers, indicating their significant contribution to their respective fields.

• Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

  Citation: 1973

  Authors: Ivan, Daniel M., Shamil R.

• SNP Genotyping Using the Sequenom MassARRAY iPLEX Platform

  Citation: 481

  Authors: Stacey, Liuda, Diana

• The Catalogue of Somatic Mutations in Cancer (COSMIC)

  Citation: 388

  Authors: S.A., G., S., E., C., J., A., J.W., P.A., M.R.

• Quality Control Procedures for Genome‐Wide Association Studies

  Citation: 179

  Authors: Stephen, Loren L., Yuki, Christopher S., Dana C., Andrew T., Mariza, Kimberly F., Jonathan L., Geoffrey, Gail, Lan, Iftikhar J., Rongling, Hua, Teri A., Martha, Catherine A., Andrew N., Daniel B., Justin E., Elizabeth W., Luke V., Russell A., Rebecca L., Marylyn D.

• Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines

  Citation: 143

  Authors: Steven M., Leslie G., Heidi L.

• Evaluation of the Mitochondrial Respiratory Chain and Oxidative Phosphorylation System Using Polarography and Spectrophotometric Enzyme Assays

  Citation: 128

  Authors: Antoni, Flavia, Francisca

• Population Stratification in Genetic Association Studies

  Citation: 110

  Authors: Jacklyn N., Jacob M., Ayush, Xiaoyi, Digna R., Todd L.

• Genetic Risk Scores

  Citation: 101

  Authors: Robert P., Tyler G., Jessica N.

• Improved Protocols for the Illumina Genome Analyzer Sequencing System

  Citation: 98

  Authors: Michael A., Harold, Daniel J.

• Production and Titration of Lentiviral Vectors

  Citation: 93

  Authors: Patrick, Didier