liftover for python, made fast with cython

fast bgen parser for python

analysing proximity clustering of de novo variants in genes

loads genes from GENCODE GTF files

BCF reader

small package to calculate read depth in BAMs

linear regression cython

package for published de novo datasets in rare disease

use multiple single-sample VCFs as if they were from one multi-sample VCF

basic pedigree file parsing

Analysis of similarity of HPO terms in groups of individuals

Enrichment of de novo mutations within genes

calculate linkage disequilibrium between pairs of variants

convert VCFs between different genome builds

filtering trio-based genetic variants in VCFs for clinical review

python implementation of SNPHWE fast exact hardy-weinberg

De novo mutation recurrence significance testing

Rules for filtering candidate de novo sites

test severity of de novo mutations

code to call mosaic de novo SNVs

repository for analysis of recessive genes

CNV inheritance from exome read-depth

code to identify conserved sites at the last base of exons, and count singletons