Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies.

scientific article published on 28 January 2015

Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/GEPI.21885
P698PubMed publication ID25631493

P50authorAndrew S AllenQ89645870
P2093author name stringYu Jiang
Janice M McCarthy
P2860cites workMolecular identification of a renal urate anion exchanger that regulates blood urate levelsQ24297979
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosisQ24310146
A method and server for predicting damaging missense mutationsQ27860835
Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemiaQ28301600
Filtering for compound heterozygous sequence variants in non-consanguineous pedigreesQ28535096
The Genotype-Tissue Expression (GTEx) projectQ28657968
SIFT: Predicting amino acid changes that affect protein functionQ29547211
Using whole-exome sequencing to identify inherited causes of autismQ30418126
Family-based association tests for sequence data, and comparisons with population-based association testsQ30587122
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence dataQ30721849
Search for compound heterozygous effects in exome sequence of unrelated subjects.Q34176262
Rare variant analysis for family-based designQ34558081
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disordersQ36733238
Uncovering the roles of rare variants in common disease through whole-genome sequencingQ37755970
Calibrating a coalescent simulation of human genome sequence variationQ40510086
Testing for modes of inheritance involving compound heterozygotesQ44985009
P433issue3
P921main subjectheterozygosityQ124059385
P304page(s)166-172
P577publication date2015-01-28
P1433published inGenetic EpidemiologyQ5532864
P1476titleTesting the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies.
P478volume39

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cites work (P2860)
Q36373886Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
Q35984136CollapsABEL: an R library for detecting compound heterozygote alleles in genome-wide association studies
Q89997206GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease

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