Unified representation of genetic variants

By Adrian Tan, Gonçalo R. Abecasis, Hyun Min Kang. Bioinform., 2015

411 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/0fc25908427b003f4a3392cd4d2f0a54a8af5fb2

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Pauline Crystal Ng
2. Paul Flicek
3. Steven Henikoff
4. Prateek Kumar
5. Yana Bromberg
6. Burkhard Rost

In Molecular Biology

1. Fiona Cunningham
2. Laurent Gil
3. Anja Thormann
4. Chuan-Sheng Foo
5. Pauline Crystal Ng
6. Huck-Hui Ng
7. Paul Flicek
8. Andreas Wilm

Citations in the corpus

• Large-scale whole-genome sequencing of three diverse Asian populations in Singapore (2018, positive): “and ambiguous positions of the same INDELs in previous studies, and here we used the parsimonious left-aligned representation to normalize INDELs.(35) We also found that chromosome X has higher proportion of novel variants than the autosomes consistently across different variant types (Supplementary”
• The Ensembl Variant Effect Predictor (2016, methodology): “Optionally, in a process analogous to that described in [88], VEP’s parser can be forced to decompose alternative alleles in complex variant descriptions to their most minimal representation by stripping identical bases from the 5′ and 3′ ends of the reference and alternative allele.”