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Resolving the full spectrum of human genome variation using Linked-Reads

Genome Research

Mar 22, 2019

Patrick MarksDeanna M Church

Abstract

Large-scale population analyses coupled with advances in technology have demonstrated that the human genome is more diverse than originally thought. To date, this diversity has largely been uncovered using short-read whole-genome sequencing. However, these short-read approaches fail to ...read more

Mentioned in this Paper

SMN1 protein, human
Genome-Wide Association Study
Genome
Genes
Gene Deletion
Whole Exome Sequencing
Survival of Motor Neuron 1 Protein
SMN2 protein, human
Comparative Genomic Analysis
Structure
35
96
Paper Details
References
  • References33
  • Citations2
1234
  • References33
  • Citations2
1

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Resolving the full spectrum of human genome variation using Linked-Reads

Genome Research

Mar 22, 2019

Patrick MarksDeanna M Church

PMID: 30894395

DOI: 10.1101/gr.234443.118

Abstract

Large-scale population analyses coupled with advances in technology have demonstrated that the human genome is more diverse than originally thought. To date, this diversity has largely been uncovered using short-read whole-genome sequencing. However, these short-read approaches fail to ...read more

Mentioned in this Paper

SMN1 protein, human
Genome-Wide Association Study
Genome
Genes
Gene Deletion
Whole Exome Sequencing
Survival of Motor Neuron 1 Protein
SMN2 protein, human
Comparative Genomic Analysis
Structure
35
96

Feeds With Similar Papers

The Broad Institute - Researcher Network

The Eli and Edythe L. Broad Institute of MIT and Harvard was launched to gain a better understanding of human health and disease through genomics. Find the latest research from the Broad Institute here.

Chromosomal Duplication

Chromosomal duplication is a result of extra genetic material within the area of the chromosome. The duplication may have no effect or may be expressed in the phenotype of that individual. Some duplications are thought to be of evolutionary selection. Discover the latest research on chromosomal duplication here.

Related Papers

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Identifying structural variants using linked-read sequencing data

BioinformaticsNovember 8, 2017
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Bioinformatics

Structural variation analysis with strobe reads

BioinformaticsApril 10, 2010
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Paper Details
References
  • References33
  • Citations2
1234
  • References33
  • Citations2
1

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