Submitted by ja607 on
| Title | Genome-wide profiling of heritable and de novo STR variations. |
| Publication Type | Journal Article |
| Year of Publication | 2017 |
| Authors | Willems, T, Zielinski, D, Yuan, J, Gordon, A, Gymrek, M, Erlich, iv, Y |
| Journal | Nat Methods |
| Volume | 14 |
| Issue | 6 |
| Pagination | 590-592 |
| Date Published | 2017 Jun |
| ISSN | 1548-7105 |
| Keywords | Algorithms, Chromosome Mapping, DNA Fingerprinting, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Microsatellite Repeats, Sequence Alignment, Sequence Analysis, DNA, Software |
| Abstract | 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. |
| DOI | 10.1038/nmeth.4267 |
| Alternate Journal | Nat Methods |
| PubMed ID | 28436466 |
| PubMed Central ID | PMC5482724 |
| Grant List | UM1 HG008901 / HG / NHGRI NIH HHS / United States |
