Exemple #1
0
def vep_protein_domain_filter_expr(
        d: hl.expr.DictExpression) -> hl.expr.BooleanExpression:
    """

    Return True of False if any protein domain source(s) are contained within pre-defined protein domain sources.
    Expected as input dict<k,v> where keys (k) represent source/database and values (v) the annotated domain_id.

    :param d: hl.DictExpression
    :return: hl.BoolExpression
    """
    domain_dbs = hl.set(PROTEIN_DOMAIN_DB)
    return (d.key_set().intersection(domain_dbs).length() >= 1)
Exemple #2
0
def get_group_to_counts_expr(k: hl.expr.StructExpression, counts: hl.expr.DictExpression) -> hl.expr.ArrayExpression:
    return hl.range(1, k.snv - 1, step=-1).flatmap(
        lambda snv: hl.range(0, k.all + 1).flatmap(
            lambda af: hl.range(0, k.csq + 1).map(
                lambda csq: hl.struct(snv=hl.bool(snv), all=hl.bool(af), csq=csq)
            )
        )
    ).filter(
        lambda key: counts.contains(key)
    ).map(
        lambda key: counts[key]
    )
Exemple #3
0
 def inbreeding_coeff(
     gt_counts: hl.expr.DictExpression,
 ) -> hl.expr.Float32Expression:
     n = gt_counts.get(0, 0) + gt_counts.get(1, 0) + gt_counts.get(2, 0)
     p = (2 * gt_counts.get(0, 0) + gt_counts.get(1, 0)) / (2 * n)
     q = (2 * gt_counts.get(2, 0) + gt_counts.get(1, 0)) / (2 * n)
     return 1 - (gt_counts.get(1, 0) / (2 * p * q * n))