(Q57733951)

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

21 January 2018

1 reference

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

1 reference

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

21 January 2018

1 reference

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection

21 January 2018

1 reference

Natural mutagenesis of human genomes by endogenous retrotransposons

21 January 2018

1 reference

Mobile interspersed repeats are major structural variants in the human genome

21 January 2018

1 reference

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

21 January 2018

1 reference

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

Complete Khoisan and Bantu genomes from southern Africa

21 January 2018

1 reference

Accurate whole human genome sequencing using reversible terminator chemistry

21 January 2018

1 reference

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

21 January 2018

1 reference

Massively parallel sequencing of ataxia genes after array-based enrichment

21 January 2018

1 reference

Mutations in PYCR1 cause cutis laxa with progeroid features

21 January 2018

1 reference

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

21 January 2018

1 reference

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

21 January 2018

1 reference

Direct selection of human genomic loci by microarray hybridization

21 January 2018

1 reference

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

21 January 2018

1 reference

Microdroplet-based PCR enrichment for large-scale targeted sequencing

21 January 2018

1 reference

PHF6 mutations in T-cell acute lymphoblastic leukemia

21 January 2018

1 reference

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

21 January 2018

1 reference

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

21 January 2018

1 reference

High definition profiling of mammalian DNA methylation by array capture and single molecule bisulfite sequencing

21 January 2018

1 reference

Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns

21 January 2018

1 reference

Single nucleotide differences (SNDs) in the dbSNP database may lead to errors in genotyping and haplotyping studies

21 January 2018

1 reference

Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

21 January 2018

1 reference

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

21 January 2018

1 reference

Massively parallel sequencing: the next big thing in genetic medicine

21 January 2018

1 reference

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

21 January 2018

1 reference

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

Prediction of deleterious human alleles

21 January 2018

1 reference