Monkol Lek

发表

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

The ExAC browser: displaying reference data information from over 60 000 exomes

Daniel G. MacArthur, Daniel Birnbaum, Konrad J. Karczewski, 2016, bioRxiv.

Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

James Zou, Gregory Valiant, Paul Valiant, 2015, bioRxiv.

Resolving the Full Spectrum of Human Genome Variation using Linked-Reads

Deanna M. Church, Nazneen Rahman, Andrew Wei Xu, 2017, bioRxiv.

Data Mining Prototype for Detecting E-Commerce Fraud

Narciso Cerpa, Rodger Jamieson, Monkol Lek, 2001, ECIS.

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

Harry Hemingway, Richard Durbin, Daniel G. MacArthur, 2015 .

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

Andres Metspalu, Mark I. McCarthy, Alex P. Reiner, 2014, PLoS genetics.

STRetch: detecting and discovering pathogenic short tandem repeat expansions

Belinda Phipson, Alicia Oshlack, Monkol Lek, 2018, Genome Biology.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Gail Clement, Jie Huang, Antonio Ciampi, 2014, Nature Communications.

Quantifying prion disease penetrance using large population control cohorts

Patrick F. Sullivan, Karen L. Mohlke, M. Arfan Ikram, 2016, Science Translational Medicine.

Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

Gregory Valiant, Paul Valiant, Daniel G. MacArthur, 2015 .

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.

Monkol Lek, Daniel G MacArthur, Vincent Plagnol, 2014, American journal of human genetics.

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

Kathryn Roeder, Stephan Ripke, Shannon Gross, 2013, Neuron.

Exome Aggregation Consortium

Adam Kiezun, Sergio Islas-Andrade, Pierre Fontanillas, 2016 .

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

Mary Goldman, Brian Craft, Jingchun Zhu, 2016, Nature Communications.

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

Marylyn D. Ritchie, Shefali S. Verma, Kelly A. Birdwell, 2015, Genome Medicine.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Kathryn N North, Francesco Muntoni, Taru Tukiainen, 2016 .

Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues

David A. Knowles, Stephen B. Montgomery, Daniel G. MacArthur, 2014, PLoS genetics.

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

Harry Hemingway, Richard Durbin, Daniel G. MacArthur, 2015, Science.

Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases

Andrew B. Nobel, Fred A. Wright, Ivan Rusyn, 2015, Scientific Reports.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Francesco Muntoni, Daniel G. MacArthur, Konrad J. Karczewski, 2016, Science Translational Medicine.

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

Monkol Lek, Daniel G MacArthur, Menachem Fromer, 2016, Nature Genetics.