Genotype and SNP calling from next-generation sequencing data

Research output: Contribution to journal › Review › Research › peer-review

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Genotype and SNP calling from next-generation sequencing data. / Nielsen, Rasmus; Paul, Joshua S.; Albrechtsen, Anders; Song, Yun S.

In: Nature Reviews. Genetics, Vol. 12, No. 6, 2011, p. 443-451.

Research output: Contribution to journal › Review › Research › peer-review

Harvard

Nielsen, R, Paul, JS, Albrechtsen, A & Song, YS 2011, 'Genotype and SNP calling from next-generation sequencing data', Nature Reviews. Genetics, vol. 12, no. 6, pp. 443-451. https://doi.org/10.1038/nrg2986

APA

Nielsen, R., Paul, J. S., Albrechtsen, A., & Song, Y. S. (2011). Genotype and SNP calling from next-generation sequencing data. Nature Reviews. Genetics, 12(6), 443-451. https://doi.org/10.1038/nrg2986

Vancouver

Nielsen R, Paul JS, Albrechtsen A, Song YS. Genotype and SNP calling from next-generation sequencing data. Nature Reviews. Genetics. 2011;12(6):443-451. https://doi.org/10.1038/nrg2986

Author

Nielsen, Rasmus ; Paul, Joshua S. ; Albrechtsen, Anders ; Song, Yun S. / Genotype and SNP calling from next-generation sequencing data. In: Nature Reviews. Genetics. 2011 ; Vol. 12, No. 6. pp. 443-451.

Bibtex

@article{7f9c04e2ce8248b3ba8e4f9b33f55b72,
title = "Genotype and SNP calling from next-generation sequencing data",
abstract = "Meaningful analysis of next-generation sequencing (NGS) data, which are produced extensively by genetics and genomics studies, relies crucially on the accurate calling of SNPs and genotypes. Recently developed statistical methods both improve and quantify the considerable uncertainty associated with genotype calling, and will especially benefit the growing number of studies using low- to medium-coverage data. We review these methods and provide a guide for their use in NGS studies.",
keywords = "Alleles, Chromosome Mapping, Data Interpretation, Statistical, Genetic Diseases, Inborn, Genotype, Humans, Likelihood Functions, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Probability, Sequence Analysis, DNA",
author = "Rasmus Nielsen and Paul, {Joshua S.} and Anders Albrechtsen and Song, {Yun S.}",
year = "2011",
doi = "10.1038/nrg2986",
language = "English",
volume = "12",
pages = "443--451",
journal = "Nature Reviews. Genetics",
issn = "1471-0056",
publisher = "nature publishing group",
number = "6",

}

RIS

TY - JOUR

T1 - Genotype and SNP calling from next-generation sequencing data

AU - Nielsen, Rasmus

AU - Paul, Joshua S.

AU - Albrechtsen, Anders

AU - Song, Yun S.

PY - 2011

Y1 - 2011

N2 - Meaningful analysis of next-generation sequencing (NGS) data, which are produced extensively by genetics and genomics studies, relies crucially on the accurate calling of SNPs and genotypes. Recently developed statistical methods both improve and quantify the considerable uncertainty associated with genotype calling, and will especially benefit the growing number of studies using low- to medium-coverage data. We review these methods and provide a guide for their use in NGS studies.

AB - Meaningful analysis of next-generation sequencing (NGS) data, which are produced extensively by genetics and genomics studies, relies crucially on the accurate calling of SNPs and genotypes. Recently developed statistical methods both improve and quantify the considerable uncertainty associated with genotype calling, and will especially benefit the growing number of studies using low- to medium-coverage data. We review these methods and provide a guide for their use in NGS studies.

KW - Alleles

KW - Chromosome Mapping

KW - Data Interpretation, Statistical

KW - Genetic Diseases, Inborn

KW - Genotype

KW - Humans

KW - Likelihood Functions

KW - Linkage Disequilibrium

KW - Polymorphism, Single Nucleotide

KW - Probability

KW - Sequence Analysis, DNA

U2 - 10.1038/nrg2986

DO - 10.1038/nrg2986

M3 - Review

C2 - 21587300

VL - 12

SP - 443

EP - 451

JO - Nature Reviews. Genetics

JF - Nature Reviews. Genetics

SN - 1471-0056

IS - 6

ER -

ID: 45422089