List of works - Konrad J. Karczewski

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)

Personal omics profiling reveals dynamic molecular and medical phenotypes

scientific article (publication date: 16 March 2012)

Variation in transcription factor binding among humans

scientific article

Performance comparison of exome DNA sequencing technologies

scientific article

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

scientific article published on December 2015

Mendelian randomization of blood lipids for coronary heart disease

scientific article

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

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

scientific article

Landscape of X chromosome inactivation across human tissues

scientific article published on October 2017

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

scientific article published on 27 May 2020

Quantifying prion disease penetrance using large population control cohorts

scientific article published on January 2016

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

scientific article published on 11 March 2013

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

scientific article published on April 2017

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

scientific article

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

scientific article

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

scientific article published on 20 February 2014

Extensive genetic variation in somatic human tissues

scientific article

Systematic functional regulatory assessment of disease-associated variants.

scientific article published on 20 May 2013

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

scientific article

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

scientific article

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

scientific article

Regulatory variation within and between species.

scientific article published on January 2011

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

A new system for comparative functional genomics of Saccharomyces yeasts

scientific article

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

scientific article

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

Chapter 7: Pharmacogenomics

scientific article

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

scientific article

A structural variation reference for medical and population genetics

scientific article published on 27 May 2020

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

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

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

scientific article

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

scientific article published on January 2012

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

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

scientific article published on 27 May 2020

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

scientific article (publication date: 2017)

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

scientific article published on 29 August 2017

Transcript expression-aware annotation improves rare variant interpretation

scientific article published on 27 May 2020

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

scientific article

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

scientific article published on 27 May 2020

Corrigendum: Landscape of X chromosome inactivation across human tissues

scientific article published in Nature

Human knockouts in a cohort with a high rate of consanguinity

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

scientific article published on 27 May 2020

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

scientific article published on 27 May 2020

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

scientific article published on 21 June 2016

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

The future of genomic medicine is here.

scientific article

List of works by Konrad J. Karczewski

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

Annotation of functional variation in personal genomes using RegulomeDB

Personal omics profiling reveals dynamic molecular and medical phenotypes

Variation in transcription factor binding among humans

Performance comparison of exome DNA sequencing technologies

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

Mendelian randomization of blood lipids for coronary heart disease

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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

Landscape of X chromosome inactivation across human tissues

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

Quantifying prion disease penetrance using large population control cohorts

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

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

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

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

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

Extensive genetic variation in somatic human tissues

Systematic functional regulatory assessment of disease-associated variants.

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

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

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

Regulatory variation within and between species.

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

Cooperative transcription factor associations discovered using regulatory variation

A new system for comparative functional genomics of Saccharomyces yeasts

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

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

Chapter 7: Pharmacogenomics

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

A structural variation reference for medical and population genetics

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

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

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

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

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

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

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

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

Transcript expression-aware annotation improves rare variant interpretation

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

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

Corrigendum: Landscape of X chromosome inactivation across human tissues

Human knockouts in a cohort with a high rate of consanguinity

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

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

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

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

The future of genomic medicine is here.

Landscape of X chromosome inactivation across human tissues