List of works - Maika Malig

A human genome structural variation sequencing resource reveals insights into mutational mechanisms

scientific article

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

scientific article

Alu repeat discovery and characterization within human genomes

scientific article

An evolutionary driver of interspersed segmental duplications in primates

scientific article published on 10 August 2020

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

scientific article

Bovine NK-lysin: Copy number variation and functional diversification.

scientific article

Characterization of missing human genome sequences and copy-number polymorphic insertions

scientific article

Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation

scientific article published on 28 March 2013

Copy number variation detection and genotyping from exome sequence data

scientific article

Diversity of human copy number variation and multicopy genes

scientific article

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

scientific article published on 03 August 2016

Epigenetic origin of evolutionary novel centromeres

scientific article published on 03 February 2017

Estimating the human mutation rate using autozygosity in a founder population

scientific article

Evolution and diversity of copy number variation in the great ape lineage

scientific article published on 03 July 2013

Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication

scientific article

Evolutionary dynamism of the primate LRRC37 gene family

scientific article

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

scientific article

Great ape genetic diversity and population history

scientific article published on 03 July 2013

Hominoid fission of chromosome 14/15 and the role of segmental duplications.

scientific article published on 27 September 2013

LINE-1 retrotransposition activity in human genomes

scientific article (publication date: 25 June 2010)

Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies

scientific article

Long-read sequence assembly of the gorilla genome

scientific article published on April 2016

Mapping and sequencing of structural variation from eight human genomes

scientific article

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

scientific article

Personalized copy number and segmental duplication maps using next-generation sequencing.

scientific article

Population-genetic properties of differentiated human copy-number polymorphisms

scientific article

Rates and patterns of great ape retrotransposition

scientific article published on 24 July 2013

Reconstructing complex regions of genomes using long-read sequencing technology

scientific article published on 13 January 2014

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

scientific article

Resolving the complexity of the human genome using single-molecule sequencing

scientific article

Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity

scientific article

Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity

scientific article published on 04 July 2014

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

scientific article (publication date: 4 April 2012)

Structural diversity and African origin of the 17q21.31 inversion polymorphism

scientific article

The evolution and population diversity of human-specific segmental duplications.

scientific article

Ultra-deep Coverage Single-molecule R-loop Footprinting Reveals Principles of R-loop Formation

scientific article published on 24 February 2020

Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma

scientific article

List of works by Maika Malig

A human genome structural variation sequencing resource reveals insights into mutational mechanisms

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

Alu repeat discovery and characterization within human genomes

An evolutionary driver of interspersed segmental duplications in primates

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

Bovine NK-lysin: Copy number variation and functional diversification.

Characterization of missing human genome sequences and copy-number polymorphic insertions

Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation

Copy number variation detection and genotyping from exome sequence data

Diversity of human copy number variation and multicopy genes

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

Epigenetic origin of evolutionary novel centromeres

Estimating the human mutation rate using autozygosity in a founder population

Evolution and diversity of copy number variation in the great ape lineage

Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication

Evolutionary dynamism of the primate LRRC37 gene family

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

Great ape genetic diversity and population history

Hominoid fission of chromosome 14/15 and the role of segmental duplications.

LINE-1 retrotransposition activity in human genomes

Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies

Long-read sequence assembly of the gorilla genome

Mapping and sequencing of structural variation from eight human genomes

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

Personalized copy number and segmental duplication maps using next-generation sequencing.

Population-genetic properties of differentiated human copy-number polymorphisms

Rates and patterns of great ape retrotransposition

Reconstructing complex regions of genomes using long-read sequencing technology

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

Resolving the complexity of the human genome using single-molecule sequencing

Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity

Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Structural diversity and African origin of the 17q21.31 inversion polymorphism

The evolution and population diversity of human-specific segmental duplications.

Ultra-deep Coverage Single-molecule R-loop Footprinting Reveals Principles of R-loop Formation

Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma