Nature methods, 2017-06, Vol.14 (6), p.590
2017
Details
- Autor(en) / Beteiligte
- Titel
- Genome-wide profiling of heritable and de novo STR variations
- Ist Teil von
- Nature methods, 2017-06, Vol.14 (6), p.590
- Ort / Verlag
- United States
- Erscheinungsjahr
- 2017
- Link zum Volltext
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases, population genetics applications, and forensic casework. However, it has proven problematic to genotype STRs from high-throughput sequencing data. Here, we describe HipSTR, a novel haplotype-based method for robustly genotyping and phasing STRs from Illumina sequencing data, and we report a genome-wide analysis and validation of de novo STR mutations. HipSTR is freely available at https://hipstr-tool.github.io/HipSTR.
- Sprache
- Englisch
- Identifikatoren
- eISSN: 1548-7105DOI: 10.1038/nmeth.4267Titel-ID: cdi_pubmed_primary_28436466
- Format
- –
- Schlagworte
- Algorithms, Chromosome Mapping - methods, DNA Fingerprinting - methods, Genetic Predisposition to Disease - genetics, Genetic Variation - genetics, Genome, Human - genetics, High-Throughput Nucleotide Sequencing, Humans, Microsatellite Repeats - genetics, Sequence Alignment, Sequence Analysis, DNA, Software