IEEE Transactions on Information Theory, 2010 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. Nevertheless, there are still great challenges in applying this knowledge routinely in the clinic, largely due to the relatively tedious and expensive process of DNA ...
Erlich, Yaniv +4 more
openaire +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 +22 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
Cellsnp-lite: an efficient tool for genotyping single cells
bioRxiv, 2021 Summary Single-cell sequencing is an increasingly used technology and has promising applications in basic research and clinical translations. However, genotyping methods developed for bulk sequencing data have not been well adapted for single-cell data ...
Xianjie Huang, Yuanhua Huang
semanticscholar +1 more source
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
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Nature Genetics, 2011 Recent advances in sequencing technology make it possible to comprehensively catalog genetic variation in population samples, creating a foundation for understanding human disease, ancestry and evolution.
M. DePristo +17 more
semanticscholar +1 more source
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
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