A reference dataset of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree
Michael A Eberle, Epameinondas Fritzilas, Peter Krusche, Morten Kallberg, Benjamin L Moore, Mitchell A Bekritsky, Zamin Iqbal, Han-Yu Chuang, Sean J Humphray, Aaron L Halpern, Semyon Kruglyak, Elliott H Margulies, Gil McVean, David R Bentley
The paper generates a high-confidence variant catalogue from whole-genome sequencing of a three-generation pedigree, validated by haplotype transmission and showing improved accuracy over existing benchmarks.
bioRxiv · Aug 2, 2016Bioinformatics