HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families

In the search for sequence variants underlying disease, commonly applied filtering steps usually result in a number of candidate variants that cannot further be narrowed down. In autosomal recessive families, disease usually occurs only in one generation so that genetic linkage analysis is unlikely...

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Dettagli Bibliografici
Pubblicato in:J Hum Genet
Autori principali: Imai, Atsuko, Kohda, Masakazu, Nakaya, Akihiro, Sakata, Yasushi, Murayama, Kei, Ohtake, Akira, Lathrop, Mark, Okazaki, Yasushi, Ott, Jurg
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2016
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5411490/
https://ncbi.nlm.nih.gov/pubmed/27357426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2016.85
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