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Authors whose works are in public domain in at least one jurisdiction

List of works by Konrad J. Karczewski

A new system for comparative functional genomics of Saccharomyces yeasts

scientific article

A structural variation reference for medical and population genetics

scientific article published on 27 May 2020

Analysis of protein-coding genetic variation in 60,706 humans

scientific article (publication date: 17 August 2016)

Annotation of functional variation in personal genomes using RegulomeDB

scientific article (publication date: September 2012)

Bioinformatics challenges for personalized medicine

scientific article published in 2011

Chapter 7: Pharmacogenomics

scientific article

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

scientific article published on 27 May 2020

Coherent functional modules improve transcription factor target identification, cooperativity prediction, and disease association

scientific article

Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies

scientific article

Cooperative transcription factor associations discovered using regulatory variation

scientific article

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

correction of a scientific article; published on 30 May 2019

Corrigendum: Landscape of X chromosome inactivation across human tissues

scientific article published in Nature

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

scientific article published on December 2015

Efficient genotype compression and analysis of large genetic-variation data sets.

scientific article

Evaluating drug targets through human loss-of-function genetic variation

scientific article published on 27 May 2020

Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine.

scientific article

Extensive genetic variation in somatic human tissues

scientific article

Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations

scientific article published on 17 December 2013

Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci

scientific article published on 20 February 2014

Genetic meta-analysis of 15,901 African Americans identifies variation in EXOC3L1 is associated with HDL concentration.

scientific article

Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans.

scientific article

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

scholarly article by Alicia R Martin et al published 3 May 2018 in American Journal of Human Genetics

Health and population effects of rare gene knockouts in adult humans with related parents

scientific article

Human genetic analyses of organelles highlight the nucleus in age-related trait heritability

scientific article published in 2021

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

scientific article

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

scientific article published on April 2017

Human knockouts in a cohort with a high rate of consanguinity

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

scientific article

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

preprint published 25 September 2016

Interpretome: a freely available, modular, and secure personal genome interpretation engine

scientific article published on January 2012

Landscape of X chromosome inactivation across human tissues

scientific article published on October 2017

Landscape of X chromosome inactivation across human tissues

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

scientific article published on 27 May 2020

Mendelian randomization of blood lipids for coronary heart disease

scientific article

Performance comparison of exome DNA sequencing technologies

scientific article

Performance of genomic medicine

scientific article (publication date: 23 December 2013)

Personal omics profiling reveals dynamic molecular and medical phenotypes

scientific article (publication date: 16 March 2012)

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence

scientific article

Population-specific single-nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans

scientific article published on 21 June 2016

Progress in genomics according to bingo: 2013 edition.

scientific article

Quantifying prion disease penetrance using large population control cohorts

scientific article published on January 2016

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Regulatory variation within and between species.

scientific article published on January 2011

STORMSeq: an open-source, user-friendly pipeline for processing personal genomics data in the cloud

scientific article

Systematic functional regulatory assessment of disease-associated variants.

scientific article published on 20 May 2013

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

scientific article published in 2022

Ten Simple Rules to Enable Multi-site Collaborations through Data Sharing

scientific article (publication date: 2017)

The effect of LRRK2 loss-of-function variants in humans

scientific article published on 27 May 2020

The future of genomic medicine is here.

scientific article

The mutational constraint spectrum quantified from variation in 141,456 humans

scientific article published on 27 May 2020

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes

scientific article published on 11 March 2013

Transcript expression-aware annotation improves rare variant interpretation

scientific article published on 27 May 2020

Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants

scientific article

Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

scientific article published on 29 August 2017

Variation in transcription factor binding among humans

scientific article

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