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List of works by Gabor T Marth

A standard variation file format for human genome sequences

scientific article (publication date: 2010)

An integrated map of genetic variation from 1,092 human genomes

scientific article

An integrated map of structural variation in 2,504 human genomes

scientific article

Demographic history and rare allele sharing among human populations

scientific article

Extending reference assembly models

scientific article

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

scientific article published on 01 December 2018

Genomic analyses implicate noncoding de novo variants in congenital heart disease

scientific article published on 29 June 2020

Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences

scientific article

Integrative annotation of variants from 1092 humans: application to cancer genomics

scientific article

Mapping copy number variation by population-scale genome sequencing

scientific article

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Multi-platform discovery of haplotype-resolved structural variation in human genomes

scientific article published on 16 April 2019

Ongoing clonal evolution in chronic myelomonocytic leukemia on hypomethylating agents: a computational perspective

scientific article published on 27 March 2018

Population genomic inferences from sparse high-throughput sequencing of two populations of Drosophila melanogaster

scientific article

The functional spectrum of low-frequency coding variation ⬇️

scientific article published on September 14, 2011

Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy

article

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