Method
A deconvolution framework that uses single-cell sequencing plus a small benchmark data set for accurate analysis of cell type ratios in complex tissue samples
- First Published November 25, 2024
Method
Phased nanopore assembly with Shasta and modular graph phasing with GFAse
- First Published April 16, 2024
Method
Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples
- First Published April 8, 2024
Method
A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome
- First Published August 18, 2020
Method
HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads
- First Published August 14, 2020
Method
Transcriptional fates of human-specific segmental duplications in brain
- First Published September 18, 2018
Method
Comparative Annotation Toolkit (CAT)—simultaneous clade and personal genome annotation
- First Published June 8, 2018
Method
MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals
- First Published February 6, 2015
Method
The discovery of integrated gene networks for autism and related disorders
- First Published November 5, 2014
Method
Reconstructing complex regions of genomes using long-read sequencing technology
- First Published January 13, 2014