Challenges and solutions for gene identification in the presence of familial locus heterogeneity

European Journal of Human Genetics

Volumn 23, Issue 9, 2015, Pages 1207-1215

  Rehman, Atteeq U ^a   Santos Cortez, Regie Lyn P ^b   Drummond, Meghan C ^a   Shahzad, Mohsin ^c,d   Lee, Kwanghyuk ^b   Morell, Robert J ^a   Ansar, Muhammad ^b,e   Jan, Abid ^e   Wang, Xin ^b   Aziz, Abdul ^e   Riazuddin, Saima ^c,d   Smith, Joshua D ^f   Wang, Gao T ^b   Ahmed, Zubair M ^d   Gul, Khitab ^c   Shearer, A Eliot ^g   Smith, Richard J H ^g   Shendure, Jay ^f   Bamshad, Michael J ^f   Nickerson, Deborah A ^f   Hinnant, John ^h,l   Khan, Shaheen N ^c   Fisher, Rachel A ⁱ   Ahmad, Wasim ^e   Friderici, Karen H ^i,j   Riazuddin, Sheikh ^c,k   Friedman, Thomas B ^a   Wilch, Ellen S ^j   Leal, Suzanne M ^b   Anderson, Peter ^f   Annable, Marcus ^f   Beightol, Mallory ^f   Browning, Brian L ^f   Buckingham, Kati J ^f   Chen, Christina ^f   Chin, Jennifer ^f   Chong, Jessica X ^f   Davis, Colleen ^f   Felker, Lindsay ^f   Frazar, Christopher ^f   Hanna, David ^f   Jarvik, Gail P ^f   Johanson, Eric ^f   Kircher, Martin ^f   Kolar, Tom ^f   Luksic, Daniel ^f   McMillin, Margaret J ^f   McGee, Sean ^f   Munson, Brenton ^f   O'Roak, Brian J ^f   Paeper, Bryan ^f   Patterson, Karynne ^f   Phillips, Eric ^f   Pijoan, Jessica ^f   Poel, Christa ^f   Robertson, Peggy D ^f   Shaffer, Tristan ^f   Shephard, Cindy ^f   Siegel, Deborah L ^f   Staples, Jeffrey C ^f   Tabor, Holly K ^f,m   Tackett, Monica ^f   Yi, Qian ^f   He, Zongxiao ^b   Abecasis, Gonçalo R ⁿ   Jun, Goo ⁿ   Cooper, Gregory M ^o   Jain, Preti ^o   more..

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF THE PUNJAB   (Pakistan)

^d UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^e QUAID I AZAM UNIVERSITY   (Pakistan)

^f UNIVERSITY OF WASHINGTON   (United States)

^g UNIVERSITY OF IOWA   (United States)

^h MICHIGAN STATE UNIVERSITY   (United States)

ⁱ MICHIGAN STATE UNIVERSITY   (United States)

^j Center for Mendelian Genomics ^*  (United States)

^k UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

^l Baylor College of Medicine ^*  (Indonesia)

^m SEATTLE CHILDREN S HOSPITAL   (United States)

ⁿ UNIVERSITY OF MICHIGAN   (United States)

^o Hudson Alpha Institute of Technology   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EUROPEAN AMERICAN; GENE IDENTIFICATION; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; PAKISTANI; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; ASIAN CONTINENTAL ANCESTRY GROUP; CAUCASIAN; CHROMOSOMAL MAPPING; CONSANGUINITY; ETHNOLOGY; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HEARING LOSS; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; HUMAN GENOME; MALE; MUTATION; PATHOLOGY; RECESSIVE GENE;

CALCIUM BINDING PROTEIN; CARRIER PROTEIN; CIB2 PROTEIN, HUMAN; CONNEXIN 26; GAP JUNCTION PROTEIN; HGF PROTEIN, HUMAN; SCATTER FACTOR; SLC26A4 PROTEIN, HUMAN;

ASIAN CONTINENTAL ANCESTRY GROUP; CALCIUM-BINDING PROTEINS; CHROMOSOME MAPPING; CONNEXIN 26; CONNEXINS; CONSANGUINITY; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GENOTYPE; HEARING LOSS; HEPATOCYTE GROWTH FACTOR; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84939588815     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.266     Document Type: Article

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