Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. - Wikidata - awgldk - TriplyDB

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.

http://www.wikidata.org/entity/Q35557672

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Achieving high-sensitivity for clinical applications using augmented exome sequencing Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance Three-stage quality control strategies for DNA re-sequencing data High-throughput sequencing in mitochondrial DNA research Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism Germline mutations in shelterin complex genes are associated with familial glioma ORegAnno 3.0: a community-driven resource for curated regulatory annotation Single-nucleotide polymorphism markers from de-novo assembly of the pomegranate transcriptome reveal germplasm genetic diversity The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data BAYSIC: a Bayesian method for combining sets of genome variants with improved specificity and sensitivity.Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism Association of exome sequences with plasma C-reactive protein levels in >9000 participants.An open access pilot freely sharing cancer genomic data from participants in Texas.The effect of strand bias in Illumina short-read sequencing data Exome sequencing in familial corticobasal degeneration Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects.Variant callers for next-generation sequencing data: a comparison study.Multi-perspective quality control of Illumina exome sequencing data using QC3.PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.Improved variant calling accuracy by merging replicates in whole-exome sequencing studies Exome sequencing generates high quality data in non-target regions.Clinical whole-exome sequencing for the diagnosis of mendelian disorders.Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.SNP discovery in European anchovy (Engraulis encrasicolus, L) by high-throughput transcriptome and genome sequencing.Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.Gene expression, single nucleotide variant and fusion transcript discovery in archival material from breast tumors.Molecular findings among patients referred for clinical whole-exome sequencing.Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.Secondary findings and carrier test frequencies in a large multiethnic sample.Identification of cis-suppression of human disease mutations by comparative genomics.Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk

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Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.

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Daniel L Burgess

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Donna M Muzny

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Irene Newsham

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Min Wang

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P2860

The diploid genome sequence of an individual human

BFAST: an alignment tool for large scale genome resequencing

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Complete Khoisan and Bantu genomes from southern Africa.

The complete genome of an individual by massively parallel DNA sequencing

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.

Exome sequencing identifies the cause of a mendelian disorder

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