Human Genetic Diversity

Stephen W. Scherer; Ada Hamosh

doi:10.1016/B978-0-323-54762-8.00004-0

Human Genetic Diversity

Stephen W. Scherer
, Ada Hamosh

School of Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Human genetic diversity stems from variation that can occur at the level of single nucleotides to stretches of chromosomal segments. This variation can be common or rare and it can play a role in disease, disease susceptibility, or be entirely benign. This chapter focuses on the nature of variation and its creation through mutation..

Original language	English (US)
Title of host publication	Thompson and Thompson Genetics and Genomics in Medicine
Publisher	Elsevier
Pages	45-59
Number of pages	15
ISBN (Electronic)	9780323547628
ISBN (Print)	9780323553315
DOIs	https://doi.org/10.1016/B978-0-323-54762-8.00004-0
State	Published - Jan 1 2023

Keywords

CNV
genome variation
mutation
repeat expansion
SNV

ASJC Scopus subject areas

General Medicine
General Biochemistry, Genetics and Molecular Biology

Access to Document

10.1016/B978-0-323-54762-8.00004-0

Cite this

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title = "Human Genetic Diversity",

abstract = "Human genetic diversity stems from variation that can occur at the level of single nucleotides to stretches of chromosomal segments. This variation can be common or rare and it can play a role in disease, disease susceptibility, or be entirely benign. This chapter focuses on the nature of variation and its creation through mutation..",

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author = "Scherer, \{Stephen W.\} and Ada Hamosh",

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AB - Human genetic diversity stems from variation that can occur at the level of single nucleotides to stretches of chromosomal segments. This variation can be common or rare and it can play a role in disease, disease susceptibility, or be entirely benign. This chapter focuses on the nature of variation and its creation through mutation..

KW - CNV

KW - genome variation

KW - mutation

KW - repeat expansion

KW - SNV

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UR - https://www.scopus.com/pages/publications/105021610404#tab=citedBy

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SP - 45

EP - 59

BT - Thompson and Thompson Genetics and Genomics in Medicine

PB - Elsevier

ER -

Human Genetic Diversity

Abstract

Keywords

ASJC Scopus subject areas

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