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Related Concept Videos

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Human Virome01:26

Human Virome

The human body harbors a vast and diverse viral community known as the human virome. The virome includes bacteriophages that infect bacteria, and eukaryotic viruses that infect human cells. Transient dietary and environmental viruses also contribute to this dynamic ecosystem. Estimates suggest the human body may contain on the order of 10¹³ viral particles, though abundance varies widely by body site and detection method.Comprehensive characterization of the virome has become possible only with...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

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Updated: Jun 2, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Bioinformatics for human genetics: promises and challenges.

Annika Lindblom1, Peter N Robinson

  • 1Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. Annika.Lindblom@ki.se

Human Mutation
|April 27, 2011
PubMed
Summary
This summary is machine-generated.

Bioinformatics and human genetics are increasingly intertwined, with new technologies generating vast data. This synergy offers improved tools for genetic research and clinical care, highlighting future research opportunities.

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Area of Science:

  • Genetics and Bioinformatics
  • Medical Informatics

Background:

  • Advancements in next-generation sequencing (NGS) and electronic health records generate large datasets for human genetics.
  • Bioinformatics and medical informatics provide essential tools for analyzing this data in research and clinical settings.

Discussion:

  • The integration of bioinformatics into human genetics research is crucial for interpreting complex genetic information.
  • Hospital IT systems and electronic health records are increasingly vital for data management and analysis.

Key Insights:

  • Human genetics scientists and clinicians benefit from enhanced bioinformatics tools for data analysis.
  • The synergy between bioinformatics and human genetics drives innovation in understanding genetic diseases.

Outlook:

  • Future research in human genetics will focus on computational challenges and unmet needs in data analysis.
  • Experts identify key computational topics for bioinformatics in human genetics over the next decade.