Software

QUILT2

Flexible read-aware genotype imputation from sequence using biobank sized reference panels

QUILT2 software illustration

QUILT2 is a scalable, read-aware genotype imputation method that uses biobank-scale reference panels. It accurately imputes genotypes from short reads, long reads, linked reads and ancient DNA, and introduces a mode for jointly imputing maternal and fetal genomes from non-invasive prenatal testing data.

Li, Z.; Albrechtsen, A.; Davies, R.W.

Nature Communications 17, 524 (2026)

software website

SVUPP

Pre-phasing long reads improves structural variant genotyping

SVUPP software illustration

SVUPP achieved higher accuracy than cuteSV2, Sniffles2 and kanpig with both long and ultra long Oxford Nanopore Technologies (ONT) data as well as Pacific Biosciences (PacBio) HiFi data for genotyping SVs without close neighbor SVs.

Li, Z.📨, Stæger, F.F., Davies, R.W., Moltke, I.📨, & Albrechtsen, A📨.

Bioinformatics (2025)

software website

PCAone

Measuring linkage disequilibrium and improvement of pruning and clumping in structured populations

PCAone software illustration

We show that population structure affect LD, pruning and clumping. We derive at new measure of LD that is corrected for population structure and admixture which improved downstream analysis

Ulises Bercovich, Malthe Sebro Rasmussen, Zilong Li, Carsten Wiuf, Anders Albrechtsen

Genetics, (2025) Pdf on my website

software website

APOH

Estimating admixture pedigrees of recent hybrids without a contiguous reference genome

APOH software illustration

How to infer the ancestry of an admixed individuals pedigree.

Genís Garcia-Erill📨, Kristian Hanghøj, Rasmus Heller, Carsten Wiuf, Anders Albrechtsen

Mol Ecol Resour 23(7) 2023

software website

evalPCA

Evaluation of population structure inferred by principal component analysis or the admixture model.

evalPCA software illustration

When do distances in a PCA reflex genetic ancestry? if two individuals cluster togeather does that mean they are some the same populations? Here we present a method that you can use to interpret you genetic PCA plot.

Jan van Waaij* 📨, Song Li* , Genís Garcia-Erill* , Anders Albrechtsen, Carsten Wiuf📨;

Genetics: 2023, 225(2);

software website

PCAone

Fast and accurate out-of-core PCA framework for large scale biobank data.

PCAone software illustration

A method for accurate PCA for large scale genetic data. Analyse millions of sites for all 500000 individuals in UKbiobank on your labtop

Zilong Li📨, Jonas Meisner, Anders Albrechtsen📨

Genome Res: 2023, 33(9);1599-1608

software website

HaploNet

Haplotype and population structure inference using neural networks in whole-genome sequencing data.

HaploNet software illustration

Using sequencing data from simulations and closely related human populations, we show that our approach is better at distinguishing closely related populations than standard admixture and principal component analysis software. We further show that HaploNet is fast and highly scalable by applying it to genotype array data of the UK Biobank. U

Jonas Meisner📨, Anders Albrechtsen

Genome Res: 2022, 32(8);1542-52

software website

SATC

Joint identification of sex and sex-linked scaffolds in non-model organisms using low depth sequencing data

SATC software illustration

Framework for joint determination of individual sex and sex-linked scaffolds for non-model organism based on depth of coverage

Nursyifa C.* ; Brüniche-Olsen A.* ; Garcia-Erill G.; Heller R.📨; Albrechtsen A.📨

Mol. Eco. res(2022)

software website

winSFS

Estimation of site frequency spectra from low-coverage sequencing data using stochastic EM reduces overfitting, runtime, and memory usage

winSFS software illustration

Inference of the site frequency spectrum (SFS) from low-depth sequencing data.

Rasmussen M.S.; Garcia-Erill G.; Korneliussen T.S.; Wiuf C.; Albrechtsen A.

Genetics(2022)

software website

EMU

Large-scale inference of population structure in presence of missingness using PCA

EMU software illustration

PCA with rampant missingness including having samples with non overlapping data

Meisner J.; Liu S.; Huang M.; Albrechtsen A.

Bioinformatics(2021)

software website

NGSremix

NGSremix: A software tool for estimating pairwise relatedness between admixed individuals from next-generation sequencing data

NGSremix software illustration

Estimating relatedness coefficients for admixture samples with low depth sequencing. Also works for F1 and other recently admixed indivudals.

Nøhr A.K.; Hanghøj K.; Garcia-Erill G.; Li Z.; Moltke I.; Albrechtsen A.

G3(2021)

software website

evalAdmix

Evaluation of model fit of inferred admixture proportions

evalAdmix software illustration

Evaluation your estimated admixture proportions. When running ADMIXTURE or NGSadmix you can evaluate the results.

Garcia-Erill G.; Albrechtsen A.

Mol. Eco. res(2020)

software website

ASAmap

Ancestry-specific association mapping in admixed populations

ASAmap software illustration

Genetic association of ancestry specific effects when you do not have information about local ancestry.

Skotte L.; Jørsboe E.; Korneliussen T.S.; Moltke I.; Albrechtsen A.

Genetic Epidemiology(2019)

software website

IBSrelate

Allele frequency-free inference of close familial relationships from genotypes or low-depth sequencing data

IBSrelate software illustration

KING, RO, R1, statistics for relatedness based only two individuals. No reference panel or allele frequencies needed

Waples R.K.; Albrechtsen A.; Moltke I.

Mol. Eco.(2019)

software website

PCAngsd

Inferring population structure and admixture proportions in low-depth NGS data

PCAngsd software illustration

PCAngsd: PCA, admixture proportions, HWE or selection scans from low depth sequencings data while accomidating population structure

Meisner J.; Albrechtsen A.

Genetics(2018)

software website

fastNGSadmix

FastNGSadmix: Admixture proportions and principal component analysis of a single NGS sample

fastNGSadmix software illustration

Estimates ancestry proportions and principal components for a single low-depth sequencing sample using reference population data.

Jørsboe E.; Hanghøj K.; Albrechtsen A.

Bioinformatics(2017)

software website

ANGSD

ANGSD: Analysis of Next Generation Sequencing Data

ANGSD software illustration

Image: ANGSD workflow from the NGS inference tutorial, MIT License.

Software for population genetic and medical genetic analysis of low depth sequencing data.

Korneliussen T.S.; Albrechtsen A.; Nielsen R.

BMC Bioinformatics(2014)

software website

relateAdmix

RelateAdmix: A software tool for estimating relatedness between admixed individuals

relateAdmix software illustration

Estimates pairwise relatedness between admixed individuals while accounting for population ancestry.

Moltke I.; Albrechtsen A.

Bioinformatics(2014)

software website

NGSadmix

Estimating individual admixture proportions from next generation sequencing data

NGSadmix software illustration

NGSadmix estimates individual ancestry proportions directly from genotype likelihoods in low-depth sequencing data.

Skotte L.; Korneliussen T.S.; Albrechtsen A.

Genetics(2013)

software website

relate

Relatedness mapping and tracts of relatedness for genome-wide data in the presence of linkage disequilibrium

relate software illustration

Relate identifies local identity-by-descent tracts while accounting for linkage disequilibrium in genome-wide data.

Albrechtsen A.; Korneliussen T.S.; Moltke I.; van Overseem Hansen T.; Nielsen F.C.; Nielsen R.

Genetic Epidemiology(2009)

software website