about
Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family studyAdvances in genetics: widening our understanding of prostate cancerRecent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing TechnologyCracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and PerspectivesProgress and prospects of next-generation sequencing testing for inherited retinal dystrophyGenome-wide association studies of chronic kidney disease: what have we learned?Disease gene identification strategies for exome sequencingReflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnosticsWhole-exome sequencing reveals TopBP1 as a novel gene in idiopathic pulmonary arterial hypertensionUnsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' viewsAnalysis of the transcriptome of the Indonesian coelacanth Latimeria menadoensisWhole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region, Sri Lanka.Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.WEP: a high-performance analysis pipeline for whole-exome data.GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files.A bioinformatics workflow for detecting signatures of selection in genomic dataIdentification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data.TUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathwayNew tools and approaches to newborn screening: ready to open Pandora's box?Supercomputing for the parallelization of whole genome analysisA Path to Implement Precision Child Health Cardiovascular MedicineA map of human microRNA variation uncovers unexpectedly high levels of variabilityACMG clinical laboratory standards for next-generation sequencing.Emerging role of the KCNT1 Slack channel in intellectual disability.Developments in Ocular Genetics: 2013 Annual ReviewExpanding the computational toolbox for mining cancer genomes.VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation SequencingExome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population.Molecular genetic testing and the future of clinical genomics.Automation of molecular-based analyses: a primer on massively parallel sequencing.The promise of whole-exome sequencing in medical genetics.EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics.Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients.Use of next generation sequencing technologies in research and beyond: are participants with mental health disorders fully protected?A hybrid likelihood model for sequence-based disease association studies.Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.High throughput exome coverage of clinically relevant cardiac genes.Genome-wide patterns of genetic variation in two domestic chickens.Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.Comparing variant calling algorithms for target-exon sequencing in a large sample
P2860
Q21132010-38AB8B84-218C-4C22-AE9D-3F04ABE48D85Q26740628-90E5A42B-732D-4AC9-8BC9-A2B9AC0E5209Q26744368-C8E147C8-8AA1-44F8-8D65-D8F1F18BADB8Q26776038-2BE4F1AA-4E45-48F8-8BAB-B2FD18916D29Q26782162-158EB811-5896-4BAB-8885-6A62FB7106D9Q26825851-20C3C2CF-A54A-40DA-889B-7F0E380930C4Q26866283-151522B8-E566-4CC9-9BAD-96A363DE114AQ27023696-57700190-6EC2-47E0-909A-D543DA410BE8Q28237461-31C59D19-D4EE-4646-99E9-E2E23125752AQ28597904-245D1E58-AC7C-4B33-912F-73FFE8949312Q28681619-7D9CA0AD-81A9-4E76-989D-82ED8B0EF362Q30375178-6F35FCCC-1D3A-4FCE-9E50-F6DBAF711C3BQ30412617-42396275-433C-4472-8557-991BE977093AQ30652513-0CDE83BF-1601-4C99-9169-05C91E5BE1FFQ30838197-E598F970-E38D-4BA8-8EEA-2E237E49BB0FQ30849548-61411078-9D78-4389-A6C2-3318ADD94F15Q31098928-0763DFE4-C6CD-4513-8641-4F69EE5FB45EQ33565553-B1E32082-62BB-43C7-8855-DF12DEB1B1D7Q33622356-39091B66-BAAA-4B28-9CD4-5750915A4371Q33641969-AB117149-1326-46DF-973D-8D4699971919Q33747402-1EE4AD35-F587-41D6-9C08-DEEFFC765F69Q33781096-233CF01E-B626-4DCD-840D-BFB62083F4C2Q33903280-2415AB3B-6360-4C72-BCDE-B7B1B0A9B9ACQ33958421-8940CCCB-8477-4982-92A0-9DA0A53AB94CQ33991982-DD8E8054-E0EC-4596-BB97-03E993C96287Q34207474-496AAAA2-F3A8-4FB7-AB25-EF30F5D54AF4Q34281023-5E64763B-8D53-4726-86DC-B929CC810572Q34322326-BBEC69E9-6B2B-4D7A-ABC2-A7CC68848D81Q34345162-2F30BC15-9EC1-4E20-89A7-A489A45F702FQ34376481-6C18EF40-5C76-40B6-B33F-2A7FDAD1C7D5Q34382912-A96929E3-34CD-4950-9DF4-A3D6EFFDDD8EQ34457238-359D26C5-ABA8-45B9-9120-57AE6BAE6ED0Q34507484-41BF301A-3B60-492A-BA07-1202DC5D8002Q34519211-02F00C16-08A1-4A48-8F15-FAB29CDAD949Q34565923-77379FEE-6018-4281-8DCC-32A4D549C63AQ34675175-62E572BC-436C-4325-A10A-35EF0C0ED9CDQ34748669-12C81773-02FF-465D-9B33-847E7FFA9589Q34787581-01D7630C-492F-4E71-97E5-73955D04C73DQ34963905-56BF0609-51C4-40B8-A2E1-F9CCA827ACCEQ35176814-468A4312-3D01-4FAD-B06A-A61D01790DCA
P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 05 July 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
What can exome sequencing do for you?
@en
What can exome sequencing do for you?
@nl
type
label
What can exome sequencing do for you?
@en
What can exome sequencing do for you?
@nl
prefLabel
What can exome sequencing do for you?
@en
What can exome sequencing do for you?
@nl
P2093
P1476
What can exome sequencing do for you?
@en
P2093
Alexandre Montpetit
Emilie Lalonde
Jacek Majewski
P304
P356
10.1136/JMEDGENET-2011-100223
P407
P577
2011-07-05T00:00:00Z