List of works - Karyn Meltz Steinberg

Building and Improving Reference Genome Assemblies

Combining microarray-based genomic selection (MGS) with the Illumina Genome Analyzer platform to sequence diploid target regions

scientific article

Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data

scientific article published in January 2018

Discovery and genotyping of structural variation from long-read haploid genome sequence data.

scientific article

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

scientific article

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

scientific article

Exome-based mapping and variant prioritization for inherited Mendelian disorders

scientific article published on 20 February 2014

Extending reference assembly models

scientific article

Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus

scientific article

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

scientific article

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

scientific article published in April 2012

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

Single haplotype assembly of the human genome from a hydatidiform mole

scientific article

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

scientific article

The next-generation sequencing revolution and its impact on genomics

scientific article published on September 2013

Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis.

scientific article

List of works by Karyn Meltz Steinberg

Building and Improving Reference Genome Assemblies

Combining microarray-based genomic selection (MGS) with the Illumina Genome Analyzer platform to sequence diploid target regions

Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data

Discovery and genotyping of structural variation from long-read haploid genome sequence data.

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Exome-based mapping and variant prioritization for inherited Mendelian disorders

Extending reference assembly models

Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus

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

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation 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

Single haplotype assembly of the human genome from a hydatidiform mole

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

The next-generation sequencing revolution and its impact on genomics

Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis.