Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data.
about
Achieving high-sensitivity for clinical applications using augmented exome sequencingMedical implications of technical accuracy in genome sequencingSpeedSeq: ultra-fast personal genome analysis and interpretation.An empirical Bayes method for genotyping and SNP detection using multi-sample next-generation sequencing data.Using genotype array data to compare multi- and single-sample variant calls and improve variant call sets from deep coverage whole-genome sequencing data.MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.Health and population effects of rare gene knockouts in adult humans with related parentsWhole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle.Clinical pertinence metric enables hypothesis-independent genome-phenome analysis for neurologic diagnosis.Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectInexpensive and Highly Reproducible Cloud-Based Variant Calling of 2,535 Human Genomes.Comparison of genetic variants in matched samples using thesaurus annotation.Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.Haplotyping germline and cancer genomes with high-throughput linked-read sequencingMetagenomic analysis of bloodstream infections in patients with acute leukemia and therapy-induced neutropenia.Sequence-based Association Analysis Reveals an MGST1 eQTL with Pleiotropic Effects on Bovine Milk CompositionWhole exome sequencing in patients with white matter abnormalities.BCFtools/csq: haplotype-aware variant consequences.A primer to clinical genome sequencingMutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.A robust targeted sequencing approach for low input and variable quality DNA from clinical samples.Comparison of phasing strategies for whole human genomes.Population genomic analyses of the chocolate tree, Theobroma cacao L., provide insights into its domestication process
P2860
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P2860
Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Joint variant and de novo muta ...... gh-throughput sequencing data.
@ast
Joint variant and de novo muta ...... gh-throughput sequencing data.
@en
type
label
Joint variant and de novo muta ...... gh-throughput sequencing data.
@ast
Joint variant and de novo muta ...... gh-throughput sequencing data.
@en
prefLabel
Joint variant and de novo muta ...... gh-throughput sequencing data.
@ast
Joint variant and de novo muta ...... gh-throughput sequencing data.
@en
P2093
P356
P1476
Joint variant and de novo muta ...... gh-throughput sequencing data.
@en
P2093
Alan Jackson
Brian S Hilbush
David Ware
Francisco M De La Vega
John G Cleary
Kurt Gaastra
Mehul Rathod
Richard Littin
Ross Braithwaite
P304
P356
10.1089/CMB.2014.0029
P577
2014-06-01T00:00:00Z