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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1906 1
1910 1
1911 4
1912 7
1939 1
1941 1
1942 1
1943 1
1944 3
1945 6
1946 16
1947 14
1948 32
1949 18
1950 30
1951 46
1952 26
1953 37
1954 48
1955 38
1956 59
1957 55
1958 46
1959 59
1960 60
1961 65
1962 55
1963 81
1964 96
1965 59
1966 83
1967 311
1968 560
1969 650
1970 733
1971 981
1972 1182
1973 1304
1974 1835
1975 1524
1976 1331
1977 1201
1978 1066
1979 1132
1980 1047
1981 1082
1982 1221
1983 1237
1984 1510
1985 1509
1986 1640
1987 1857
1988 1855
1989 2293
1990 2761
1991 2917
1992 3158
1993 3623
1994 4335
1995 5288
1996 5947
1997 7035
1998 7919
1999 9827
2000 11526
2001 12984
2002 13652
2003 15182
2004 17228
2005 19747
2006 21569
2007 23926
2008 26338
2009 28456
2010 30474
2011 32447
2012 34614
2013 35150
2014 35966
2015 36251
2016 35284
2017 33936
2018 32344
2019 33130
2020 33149
2021 32463
2022 26905
2023 24068
2024 9979

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Search Results

663,863 results

Results by year

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Page 1
Genotype Imputation in Genome-Wide Association Studies.
Naj AC. Naj AC. Curr Protoc Hum Genet. 2019 Jun;102(1):e84. doi: 10.1002/cphg.84. Curr Protoc Hum Genet. 2019. PMID: 31216114 Review.
Genotype imputation infers missing genotypes in silico using haplotype information from reference samples with genotypes from denser genotyping arrays or sequencing. ...For practical application, it provides a step-by-step guide to implementation of a …
Genotype imputation infers missing genotypes in silico using haplotype information from reference samples with genotypes …
CAPG: comprehensive allopolyploid genotyper.
Kulkarni R, Zhang Y, Cannon SB, Dorman KS. Kulkarni R, et al. Bioinformatics. 2023 Jan 1;39(1):btac729. doi: 10.1093/bioinformatics/btac729. Bioinformatics. 2023. PMID: 36367243 Free PMC article.
Recent polyploid genotyping methods use allelic frequencies, rate of heterozygosity, parental cross or other information to resolve read assignment, but good subgenomic references offer the most direct information. ...RESULTS: We introduce the Comprehensive Allopolyploid …
Recent polyploid genotyping methods use allelic frequencies, rate of heterozygosity, parental cross or other information to resolve r …
Nebula: ultra-efficient mapping-free structural variant genotyper.
Khorsand P, Hormozdiari F. Khorsand P, et al. Nucleic Acids Res. 2021 May 7;49(8):e47. doi: 10.1093/nar/gkab025. Nucleic Acids Res. 2021. PMID: 33503255 Free PMC article.
Furthermore, current approaches are mostly limited to only specific types of variants and are generally prone to various errors and ambiguities when genotyping complex events. We are proposing an ultra-efficient approach for genotyping any type of structural variati …
Furthermore, current approaches are mostly limited to only specific types of variants and are generally prone to various errors and ambiguit …
Accurate Imputation of Untyped Variants from Deep Sequencing Data.
Torkamaneh D, Belzile F. Torkamaneh D, et al. Methods Mol Biol. 2021;2243:271-281. doi: 10.1007/978-1-0716-1103-6_13. Methods Mol Biol. 2021. PMID: 33606262 Review.
The quality, statistical power, and resolution of genome-wide association studies (GWAS) are largely dependent on the comprehensiveness of genotypic data. Over the last few years, despite the constant decrease in the price of sequencing, whole-genome sequencing (WGS) of as …
The quality, statistical power, and resolution of genome-wide association studies (GWAS) are largely dependent on the comprehensiveness of …
The evolutionary genetics of canalization.
Flatt T. Flatt T. Q Rev Biol. 2005 Sep;80(3):287-316. doi: 10.1086/432265. Q Rev Biol. 2005. PMID: 16250465 Review.
This paper reviews what has been learned about canalization since Waddington. Canalization implies that a genotype's phenotype remains relatively invariant when individuals of a particular genotype are exposed to different environments (environmental canaliza …
This paper reviews what has been learned about canalization since Waddington. Canalization implies that a genotype's phenotype …
KAGE: fast alignment-free graph-based genotyping of SNPs and short indels.
Grytten I, Dagestad Rand K, Sandve GK. Grytten I, et al. Genome Biol. 2022 Oct 4;23(1):209. doi: 10.1186/s13059-022-02771-2. Genome Biol. 2022. PMID: 36195962 Free PMC article.
Genotyping is a core application of high-throughput sequencing. We present KAGE, a genotyper for SNPs and short indels that is inspired by recent developments within graph-based genome representations and alignment-free methods. KAGE uses a pan-genome representation …
Genotyping is a core application of high-throughput sequencing. We present KAGE, a genotyper for SNPs and short indels that is …
popSTR: population-scale detection of STR variants.
Kristmundsdóttir S, Sigurpálsdóttir BD, Kehr B, Halldórsson BV. Kristmundsdóttir S, et al. Bioinformatics. 2017 Dec 15;33(24):4041-4048. doi: 10.1093/bioinformatics/btw568. Bioinformatics. 2017. PMID: 27591079
However, microsatellite variations are rarely considered in whole-genome sequencing studies, in large due to a lack of tools capable of analyzing them. RESULTS: Here we present a microsatellite genotyper, optimized for Illumina WGS data, which is both faster and more accur …
However, microsatellite variations are rarely considered in whole-genome sequencing studies, in large due to a lack of tools capable of anal …
Data Integration, Imputation, and Meta-analysis for Genome-Wide Association Studies.
Joukhadar R, Daetwyler HD. Joukhadar R, et al. Methods Mol Biol. 2022;2481:173-183. doi: 10.1007/978-1-0716-2237-7_11. Methods Mol Biol. 2022. PMID: 35641765
Growing genomic and phenotypic datasets require different groups around the world to collaborate and integrate these valuable resources to maximize their benefit and increase reference population sizes for genomic prediction and genome-wide association studies (GWAS). However, di …
Growing genomic and phenotypic datasets require different groups around the world to collaborate and integrate these valuable resources to m …
InvertypeR: Bayesian inversion genotyping with Strand-seq data.
Hanlon VCT, Mattsson CA, Spierings DCJ, Guryev V, Lansdorp PM. Hanlon VCT, et al. BMC Genomics. 2021 Jul 31;22(1):582. doi: 10.1186/s12864-021-07892-9. BMC Genomics. 2021. PMID: 34332539 Free PMC article.
RESULTS: Here we describe "InvertypeR", a method based on a Bayesian binomial model that genotypes inversions using fixed genomic coordinates. We validated InvertypeR by re-genotyping inversions reported for three trios by the Human Genome Structural Variation Conso …
RESULTS: Here we describe "InvertypeR", a method based on a Bayesian binomial model that genotypes inversions using fixed genomic coo …
Genotyping inversions and tandem duplications.
Ebler J, Schönhuth A, Marschall T. Ebler J, et al. Bioinformatics. 2017 Dec 15;33(24):4015-4023. doi: 10.1093/bioinformatics/btx020. Bioinformatics. 2017. PMID: 28169394
RESULTS: We introduce a novel statistical approach, called DIGTYPER (Duplication and Inversion GenoTYPER), which computes genotype likelihoods for a given inversion or duplication and reports the maximum likelihood genotype. In contrast to purely coverage-bas …
RESULTS: We introduce a novel statistical approach, called DIGTYPER (Duplication and Inversion GenoTYPER), which computes genotype …
663,863 results
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