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Detection of rare disease-related genetic variants using the birthday model

bioRxiv

Nov 7, 2018

Yael BersteinW. Richard McCombie

Abstract

Motivation: Exome sequencing is a powerful technique for the identification of disease-causing genes. A number of Mendelian inherited disease genes have been identified through this method. However, it remains a challenge to leverage exome sequencing for the study of complex disorders, ...read more

Mentioned in this Paper

Study
Genome
Genes
Schizophrenia
Aggregation
Candidate Disease Gene
Nucleic Acid Sequencing
Recurrent Malignant Neoplasm
Cognitive Complexity
Statistical Test
15
10
Paper Details
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Detection of rare disease-related genetic variants using the birthday model

bioRxiv

Nov 7, 2018

Yael BersteinW. Richard McCombie

PMID: 990464842

DOI: 10.1101/464842

Abstract

Motivation: Exome sequencing is a powerful technique for the identification of disease-causing genes. A number of Mendelian inherited disease genes have been identified through this method. However, it remains a challenge to leverage exome sequencing for the study of complex disorders, ...read more

Mentioned in this Paper

Study
Genome
Genes
Schizophrenia
Aggregation
Candidate Disease Gene
Nucleic Acid Sequencing
Recurrent Malignant Neoplasm
Cognitive Complexity
Statistical Test
15
10

Similar Papers Found In These Feeds

Schizophrenia And Bipolar Disorder: Genome Sequencing

Genome-wide and high-throughput DNA sequencing in Schizophrenia and Bipolar Disorder can be used to identify genes and pathways that contribute to disease risk. Here is the latest research.

Misfolding & Aggregation Diseases

Misfolding and aggregation of proteins can lead to several diseases. For instance, misfolding of prion or tau proteins are associated with several neurodegenerative diseases. Here is the latest research on diseases caused by protein misfolding and aggregation.

Paper Details
References
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  • Citations
  • finger pointing at paper

    References currently unavailable

    We're still populating references for this paper, please check back later.
  • References
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