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Ethnic Identity within a Larger Culture01:27

Ethnic Identity within a Larger Culture

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Adolescents from ethnic minority backgrounds face a multifaceted journey in forming their identities, shaped by the intersections of cultural expectations and personal exploration. For these adolescents, identity formation involves not only typical developmental challenges but also navigating the perceptions and attitudes of the majority culture. As they grow, adolescents in ethnic minority groups often become increasingly aware of stereotypes, social biases, and discrimination, all of which...
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Genomics02:02

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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...
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Inertial Frames of Reference01:03

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Newton’s first law is usually considered to be a statement about reference frames. It provides a method for identifying a special type of reference frame: the inertial reference frame. In principle, we can make the net force on a body zero. If its velocity relative to a given frame is constant, then that frame is said to be inertial. So, by definition, an inertial reference frame is a reference frame where Newton's first law holds valid. Newton's first law applies to objects with...
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Non-inertial Frames of Reference01:27

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A reference frame accelerating or decelerating relative to an inertial frame is a non-inertial frame. To help understand this, consider what taking off in an airplane, turning a corner in a car, riding a merry-go-round, and the circular motion of a tropical cyclone all have in common. All these systems are accelerating, decelerating, or rotating relative to the Earth; hence, they all are non-inertial frames. All these systems exhibit inertial forces, which merely seem to arise from motion,...
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Normal Stress01:19

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Normal stress is a type of stress that occurs when forces act perpendicular, or normal, to a material's cross-sectional area. This stress often arises in structures when subjected to axial loading, which is the application of force along the axis of an object. A practical example of this can be found in bridge truss members.
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Genome Size and the Evolution of New Genes03:21

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While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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Related Experiment Video

Updated: Jan 23, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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In Vivo Modeling of the Morbid Human Genome using Danio rerio

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hg19KIndel: ethnicity normalized human reference genome.

Harsh G Shukla1, Pushpinder Singh Bawa1,2, Subhashini Srinivasan3

  • 1Institute of Bioinformatics and Applied Biotechnology, Biotech Park, Electronic City Phase I, Bangalore, 560100, India.

BMC Genomics
|June 8, 2019
PubMed
Summary
This summary is machine-generated.

The hg19 human reference genome contains minor alleles that cause false positives and mask disease variants. A new reference genome, hg19KIndel, corrects these errors, improving variant calling accuracy and data interpretation.

Keywords:
Disease predispositionHuman reference genomeMajor and minor allelesPopulation studyVariant calling

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Area of Science:

  • Genomics
  • Bioinformatics
  • Human Genetics

Background:

  • The widely used hg19 human reference genome contains 2.18 million minor alleles.
  • These minor alleles contribute to a significant percentage of false positive variant calls and mask potentially disease-related variants.
  • This necessitates improved reference genomes for accurate genetic analysis.

Purpose of the Study:

  • To develop an ethnically normalized human reference genome by correcting minor alleles in hg19.
  • To reduce false positives and false negatives in variant calling.
  • To enhance the accuracy of downstream genomic data interpretation.

Main Methods:

  • Replaced 2.18 million minor alleles (SNPs, INDELs, MNPs) in the hg19 reference genome with their corresponding major alleles.
  • Created a new reference genome designated as hg19KIndel.
  • Evaluated the impact of hg19KIndel on variant calling accuracy and read alignment.

Main Results:

  • The hg19KIndel reference genome significantly reduces false positive variant calls.
  • It also improves the detection of false negative variants that were previously missed.
  • hg19KIndel enhances read alignment quality compared to the standard hg19.
  • Corrected sequencing errors present in the original hg19 assembly.

Conclusions:

  • A new human reference genome, hg19KIndel, has been developed and made available.
  • hg19KIndel demonstrably reduces false positives and improves false negative variant detection.
  • This leads to a reduced burden in downstream analysis and validation of genetic findings.
  • The hg19KIndel reference genome offers superior mapping performance.