Results 11 to 20 of about 554,185 (237)
IEEE Transactions on Information Theory, 2009 Significant volumes of knowledge have been accumulated in recent years linking subtle genetic variations to a wide variety of medical disorders from Cystic Fibrosis to mental retardation.
Brand, Michael +4 more
core +5 more sources
A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17 [PDF]
, 2015 Closed breeding populations in the dog in conjunction with advances in gene mapping and sequencing techniques facilitate mapping of autosomal recessive diseases and identification of novel disease-causing variants, often using unorthodox experimental ...
A McKenna +27 more
core +25 more sources
Annual Review of Genomics and Human Genetics, 2009 Genotype imputation is now an essential tool in the analysis of genome-wide association scans. This technique allows geneticists to accurately evaluate the evidence for association at genetic markers that are not directly genotyped. Genotype imputation is particularly useful for combining results across studies that rely on different genotyping ...
Yun Li +3 more
openaire +3 more sources
ON THE FINDABILITY OF GENOTYPES [PDF]
Evolution, 2013 Can we define a measure that describes how easy or difficult it is for a population to evolve to a specific genotype? For populations evolving under weak mutation on a time-invariant fitness landscape, I argue that one appropriate measure is the expected waiting time, starting from equilibrium, for a population to become fixed for a given genotype ...
David M. McCandlish, David M. McCandlish
openaire +3 more sources
Germline genetic variation in prostate susceptibility does not predict outcomes in the chemoprevention trials PCPT and SELECT [PDF]
, 2020 Background The development of prostate cancer can be influenced by genetic and environmental factors. Numerous germline SNPs influence prostate cancer susceptibility.
Ahmed, M +7 more
core +2 more sources
Forensic SNP genotyping using nanopore MinION sequencing [PDF]
, 2017 One of the latest developments in next generation sequencing is the Oxford Nanopore Technologies' (ONT) MinION nanopore sequencer. We studied the applicability of this system to perform forensic genotyping of the forensic female DNA standard 9947 A using
Cornelis, Senne +4 more
core +2 more sources
GBS-SNP-CROP: a reference-optional pipeline for SNP discovery and plant germplasm characterization using variable length, paired-end genotyping-by-sequencing data [PDF]
, 2016 Background: With its simple library preparation and robust approach to genome reduction, genotyping-by-sequencing (GBS) is a flexible and cost-effective strategy for SNP discovery and genotyping, provided an appropriate reference genome is available. For
Bartaula, Radhika +2 more
core +2 more sources
Benchmarking database systems for Genomic Selection implementation [PDF]
, 2019 Motivation: With high-throughput genotyping systems now available, it has become feasible to fully integrate genotyping information into breeding programs.
Guignon, Valentin +10 more
core +2 more sources
A universal method for automated gene mapping [PDF]
, 2005 Small insertions or deletions (InDels) constitute a ubiquituous class of sequence polymorphisms found in eukaryotic genomes. Here, we present an automated high-throughput genotyping method that relies on the detection of fragment-length polymorphisms ...
Basler, Konrad +6 more
core +2 more sources