Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics.
about
Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debateMotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.The genetic basis of DOORS syndrome: an exome-sequencing studyTargeted resequencing and variant validation using pxlence PCR assaysIntegration of cancer genomics with treatment selection: from the genome to predictive biomarkersWhole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing.The usefulness of whole-exome sequencing in routine clinical practice.The incorporation of predictive genomic testing into genetic counseling programs.
P2860
Q28661760-CE9B8198-59A4-4A5D-A632-FAAB9E6A6409Q34234134-B4E27AB5-3FCA-4D5C-8155-4AFB4C8392E0Q34388873-062432CF-EE92-4791-AAFD-2A6DE97A322FQ36769289-CE42C9CC-2CD0-4FCB-9D71-0C4FA6A06C47Q37595614-ECD3F55E-8072-4482-8296-E496C8ADF2E4Q38671656-66AA8A59-979B-4C4A-A580-B350FEDD87DBQ47705355-F889A1E5-FF7B-47DC-A379-914DD4833F9CQ48786445-EE1FDA66-4105-452C-9D51-30255B4650F0Q50657606-F707CD37-FCC9-4CDA-B1D4-6C733C518E7EQ50683723-DD1895B1-6960-4BB4-8451-2ED942480FC7
P2860
Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Exome and whole-genome sequenc ...... tice in molecular diagnostics.
@en
type
label
Exome and whole-genome sequenc ...... tice in molecular diagnostics.
@en
prefLabel
Exome and whole-genome sequenc ...... tice in molecular diagnostics.
@en
P2093
P1433
P1476
Exome and whole-genome sequenc ...... tice in molecular diagnostics.
@en
P2093
P304
P356
10.1373/CLINCHEM.2012.193128
P407
P50
P577
2012-10-11T00:00:00Z