Prioritizing genes for X-linked diseases using population exome data
نویسندگان
چکیده
منابع مشابه
Prioritizing genes for X-linked diseases using population exome data.
Many new disease genes can be identified through high-throughput sequencing. Yet, variant interpretation for the large amounts of genomic data remains a challenge given variation of uncertain significance and genes that lack disease annotation. As clinically significant disease genes may be subject to negative selection, we developed a prediction method that measures paucity of non-synonymous v...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2014
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddu473