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Related Concept Videos

Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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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.
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Updated: Mar 8, 2026

Generation of Genome-wide Chromatin Conformation Capture Libraries from Tightly Staged Early Drosophila Embryos
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Phased Genome Sequencing Through Chromosome Sorting.

Xi Chen1,2, Hong Yang1,2, Wing Hung Wong3,4,5

  • 1Department of Statistics, Stanford University, Stanford, CA, 94305, USA.

Methods in Molecular Biology (Clifton, N.J.)
|February 1, 2017
PubMed
Summary
This summary is machine-generated.

Obtaining long-range genomic phase information is crucial for understanding genome function and disease. We present Phase-seq, a novel method using FACS-mediated chromosome sorting and next-generation sequencing for complete chromosome phasing.

Keywords:
Chromosome sortingHaplotypePhased sequencingSNPSingle chromosome sequencing

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Area of Science:

  • Genomics
  • Molecular Biology
  • Genetic Sequencing

Background:

  • Genomic phase information is vital for understanding genome function, phenotype, and disease.
  • Obtaining long-range phase information presents significant challenges, especially with advancements in sequencing technology.

Purpose of the Study:

  • To present a detailed protocol for a method that achieves complete chromosome phasing.
  • To introduce Phase-seq as a solution for generating long-range genomic phase information.

Main Methods:

  • Utilizing Fluorescence-Activated Cell Sorting (FACS) for chromosome sorting.
  • Employing next-generation sequencing (NGS) technologies.
  • Combining FACS and NGS to develop the Phase-seq method.

Main Results:

  • Phase-seq enables the generation of genomic sequences that are completely phased across the entire chromosome.
  • The protocol provides a detailed approach for achieving comprehensive genomic phasing.

Conclusions:

  • Phase-seq offers a robust method for obtaining essential long-range genomic phase information.
  • This technique has implications for advancing our understanding of genome function, phenotype, and disease.