Results 141 to 150 of about 73,831 (171)

Next generation sequencing in dilated cardiomyopathy: utility and challenges in the African context. [PDF]

Front Cardiovasc Med
Mayisela M, Mpanya D, Adamu UG, Mpangase PT, Lombard Z, Amoni J, Mboweni N, Tsabedze N.   +7 more
europepmc   +1 more source

Prenatal Use of Exome Sequencing and Chromosomal Microarray Analysis: Indications, Interpretation, and Gene Selection Strategies. [PDF]

Diagnostics (Basel)
Rodriguez-Revenga L, Ardiles-Ruesjas V, Borrell A.   +2 more
europepmc   +1 more source

Expanding the Genetic Landscape of Congenital Insensitivity to Pain. [PDF]

Neurol Genet
Pho-Iam T, Kulsirichawaroj P, Likasitwattanakul S, Ridchuayrod N, Sanmaneechai O, Limwongse C, Zuchner S.   +6 more
europepmc   +1 more source

Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15. [PDF]

Neurogenetics
Mitsutake A, Matsukawa T, Orimo K, Ueda K, Seki T, Shiio Y, Mitsui J, Ishiura H, Mori H, Tsuji S, Toda T.   +10 more
europepmc   +1 more source

Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.

Health Technol Assess
Freeman K, Dinnes J, Shinkins B, Clark C, Kander I, Scandrett K, Chockalingam S, Osman A, Dracup N, Court R, Butt F, Visintin C, Bonham JR, Elliman D, Shortland G, Mackie A, Miedzybrodzka Z, Morgan SM, Boardman F, Takwoingi Y, Taylor-Phillips S.   +20 more
europepmc   +1 more source

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Whole-Exome/Genome Sequencing and Genomics

Pediatrics, 2013
As medical genetics has progressed from a descriptive entity to one focused on the functional relationship between genes and clinical disorders, emphasis has been placed on genomics. Genomics, a subelement of genetics, is the study of the genome, the sum total of all the genes of an organism.
Wayne W, Grody, Barry H, Thompson, Louanne, Hudgins   +2 more
openaire   +2 more sources

Identification of de novo germline mutations and causal genes for sporadic diseases using trio‐based whole‐exome/genome sequencing

Biological Reviews, 2017
ABSTRACTWhole‐genome or whole‐exome sequencing (WGS/WES) of the affected proband together with normal parents (trio) is commonly adopted to identify de novo germline mutations (DNMs) underlying sporadic cases of various genetic disorders. However, our current knowledge of the occurrence and functional effects of DNMs remains limited and accurately ...
Zi‐Bing Jin, Zhongshan Li, Zhenwei Liu, Yi Jiang, Xue‐Bi Cai, Jinyu Wu   +5 more
openaire   +2 more sources