Next generation sequencing

Post-analysis categorization
- Literature search
Post-survey categorization
- Features validated in most cases
- Features not validated
Simple lists
Preliminary lists

Tool name

ProbHD

URL

http://www.mcb.mcgill.ca/~blanchem/reseq/

Important features

1. Used for identifying heterozygous sites in a single individual by using a machine learning approach that generates a heterozygosity score for each chromosomal position. 2. Helps in the identification of regions with unequal representation of two alleles and other poorly sequenced regions.

Citations

Hoberman R, Dias J, Ge B, Harmsen E, Mayhew M, Verlaan DJ, Kwan T, Dewar K, Blanchette M, Pastinen T. A probabilistic approach for SNP discovery in high-throughput human resequencing data. Genome Res. 2009 Sep;19(9):1542-52. Epub 2009 Jul 15. PubMed PMID: 19605794; PubMed Central PMCID: PMC2752119.

Year of publication

2009

Rank by usage frequency

100

Comments

Function

SNP discovery