Targeted capture and massively parallel sequencing of 12 human exomes
about
OTX2 duplication is implicated in hemifacial microsomiaExome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.Extraordinary molecular evolution in the PRDM9 fertility geneExome sequencing identifies ZNF644 mutations in high myopiaWhole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease geneEarly Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical PatientRET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma familyWhole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteasesWhole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasiaMutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth diseaseModernizing reference genome assembliesEnrichment of sequencing targets from the human genome by solution hybridizationExome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegiaA comparative analysis of exome captureHuman genetics and genomics a decade after the release of the draft sequence of the human genomeMitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesCritical evaluation of imprinted gene expression by RNA-Seq: a new perspectiveHuman genome sequencing in health and diseaseAnalysis of genetic inheritance in a family quartet by whole-genome sequencingGenetic diagnosis by whole exome capture and massively parallel DNA sequencingThe genetics of attention deficit/hyperactivity disorder in adults, a reviewToward a better understanding of ADHD: LPHN3 gene variants and the susceptibility to develop ADHDPersonalized medicine: hope or hype?Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingWhole-exome sequencing identifies recessive WDR62 mutations in severe brain malformationsExome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesiaCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyKLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephronWhole-exome-sequencing-based discovery of human FADD deficiencyMutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repairExome sequencing identifies NBEAL2 as the causative gene for gray platelet syndromeIdentification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.A population-specific HTR2B stop codon predisposes to severe impulsivityHomozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathyGenome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathyAnalysis of the genome to personalize therapy for melanomaNext-generation sequencing in aging research: emerging applications, problems, pitfalls and possible solutionsEvaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosisExome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesisExome sequencing identifies the cause of a mendelian disorder
P2860
Q21090627-05E843B0-EB4D-4917-ACAA-3E1F7B62B797Q21090932-71FD27C9-7EFB-4669-9BEB-0605D876B0B2Q21091163-6FB4F4F9-91EA-403D-A9B3-CC864B221CC6Q21092428-5590DB03-174E-4C5B-8FAD-315E669B5E0DQ21092439-CA189C8F-C251-4952-A16B-2B53F35296C6Q21131287-CB3BB68C-DF56-454D-85E1-AD29D9913262Q21135360-CFBAEC20-86FD-45CF-AEFD-02122DC944CBQ21144939-B90E29D0-546D-4F78-9C28-23CC1213241FQ21144959-978072F7-3407-40CE-892E-8512653000D3Q21144974-42A57641-8B79-4A32-A2F8-68B4CED06A67Q21145769-8CBC172F-F443-4C7E-BA73-93E641C50688Q21183896-7A3636A9-DC35-4A6A-897B-BF00222EB7E9Q21184016-3A88AD7E-DB2C-4917-9928-D99F9713317DQ21184017-5353741A-63FC-4F74-BB96-7C35FF27804BQ21245451-0E77D249-354A-4698-BB53-016B23135AD6Q21296841-40FC7F04-E970-4D5D-B4E1-D661A64ECF66Q21563370-6659AFE9-432A-4729-85FB-CEEAC0CFA63CQ22065433-4E470EDA-D07C-4EC3-9E1E-B946A932F67BQ22065898-4A86222A-5054-42F4-A8E8-B72BBE950756Q22066282-79BE8209-DD90-4CFE-91EB-EAF414D01035Q22251103-D50E2033-4502-448D-9016-1FE27CBB9DEBQ22252571-94D86277-1F4C-40CB-BC82-CA0A472C3B3AQ24289193-DFDD4237-D8B7-4EF8-8D1B-E652CCBA2BA1Q24294774-39E4F513-ECE8-46B4-A857-6ED289D7FA80Q24296941-80A9B527-1838-4A51-A447-72F607A360E0Q24297970-37B0ABA8-9C32-4D30-8362-C849EE58AB14Q24299464-CBAAF46B-9CB6-4E49-ABB5-AC7C75326B31Q24307394-C10E1D92-35BF-4E2A-AF33-4779883300B0Q24309135-8C3D9831-AD93-426E-8D45-71B1A9740070Q24310583-A1A3709D-28F8-46C6-81E9-4C5399D420A3Q24314885-3C7CBCFB-A4DA-476F-981C-CA9705391175Q24317590-3E4B911A-F0C3-4C62-95CB-D9CA54C2D436Q24319808-4D936B58-3BF2-4334-937F-A43916CF2461Q24339132-490D29FA-DA46-4019-808D-3C49BA47F895Q24594051-CA0627BA-BF34-47B2-A844-8C791B083153Q24601008-69579A1E-81E4-4219-B5FF-632A4F7E6F18Q24602951-1E642985-3E26-4535-9913-BB2B9FC30ADEQ24605104-CB2F80D2-7374-4B43-92C7-CC7C23A54161Q24607347-4CAD4409-FBCC-464F-813C-A60506075F0CQ24607742-D1965EE7-AFF2-495E-8FD3-3ED8E208D347
P2860
Targeted capture and massively parallel sequencing of 12 human exomes
description
2009 nî lūn-bûn
@nan
2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Targeted capture and massively parallel sequencing of 12 human exomes
@ast
Targeted capture and massively parallel sequencing of 12 human exomes
@en
Targeted capture and massively parallel sequencing of 12 human exomes
@nl
type
label
Targeted capture and massively parallel sequencing of 12 human exomes
@ast
Targeted capture and massively parallel sequencing of 12 human exomes
@en
Targeted capture and massively parallel sequencing of 12 human exomes
@nl
prefLabel
Targeted capture and massively parallel sequencing of 12 human exomes
@ast
Targeted capture and massively parallel sequencing of 12 human exomes
@en
Targeted capture and massively parallel sequencing of 12 human exomes
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Targeted capture and massively parallel sequencing of 12 human exomes
@en
P2093
Abigail W Bigham
Arindam Bhattacharjee
Deborah A Nickerson
Michael Bamshad
Michelle Wong
Peggy D Robertson
Sarah B Ng
Steven D Flygare
Tristan Shaffer
P2860
P2888
P3181
P356
10.1038/NATURE08250
P407
P577
2009-09-10T00:00:00Z
P5875
P6179
1038593056